(used for variant description)
(last modified October 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001543.4 in the NDST1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_041806.1, covering NDST1 transcript NM_001543.4.
(upstream sequence)
. . g.15356
aacagtaatgccatttttcctg c.-481
. . . . . . g.15416
gccctgggattaggtgcagccgtgttaaggagaggacattcgagagggcgtggcgaagtg c.-421
. . . . | 02 . . g.28117
aagaggaacctcacgccactgcctggagctccg | ccttagccccgtgggccccacggagtg c.-361
. . . . . . g.28177
agcggcatgcagcacccccgggcctgtccagtgtcctctggcctgctgccctgcaccccc c.-301
. . . . . . g.28237
agaaggccctgacgccctggggcacttctgctctgcacaggaccacgcgggggtttgcca c.-241
. . . . . . g.28297
tggtgacataaaggggcgcggaggaaggaaggagcgtgaccagcctgtggactgcgcccc c.-181
. . . . . . g.28357
tggctgggaggaaggactgggggcccagatcctccactcccagtgccccacaagggcgtc c.-121
. . . . . . g.28417
gcttcctaagtctctgtgaatttgttggtcagtggacgattctcgtgtctcctcctgtgt c.-61
. . . . . . g.28477
ggggccttggggtagccagggcaggccgggcctccggtggccaaggtctcggaggccagg c.-1
. . . . . . g.28537
ATGCCTGCCCTGGCATGCCTCCGGAGGCTGTGTCGGCACGTGTCCCCGCAGGCTGTCCTT c.60
M P A L A C L R R L C R H V S P Q A V L p.20
. . . . . . g.28597
TTCCTGCTGTTCATCTTCTGCCTGTTCAGCGTTTTCATCTCGGCCTACTACCTATATGGC c.120
F L L F I F C L F S V F I S A Y Y L Y G p.40
. . . . . . g.28657
TGGAAGCGAGGCCTGGAGCCCTCGGCGGATGCCCCCGAGCCTGACTGCGGGGACCCGCCG c.180
W K R G L E P S A D A P E P D C G D P P p.60
. . . . . . g.28717
CCTGTGGCCCCCAGTCGCCTGCTGCCACTCAAGCCTGTGCAGGCAGCCACCCCTTCCCGC c.240
P V A P S R L L P L K P V Q A A T P S R p.80
. . . . . . g.28777
ACAGACCCGTTGGTGCTGGTCTTTGTGGAGAGCCTCTACTCGCAACTGGGCCAGGAGGTG c.300
T D P L V L V F V E S L Y S Q L G Q E V p.100
. . . . . . g.28837
GTGGCCATCCTGGAGTCCAGCCGCTTCAAATACCGCACAGAGATTGCGCCGGGCAAGGGT c.360
V A I L E S S R F K Y R T E I A P G K G p.120
. . . . . . g.28897
GACATGCCCACGCTCACTGACAAGGGCCGTGGCCGCTTCGCCCTCATCATCTATGAGAAC c.420
D M P T L T D K G R G R F A L I I Y E N p.140
. . . . . . g.28957
ATCCTCAAGTATGTCAACCTGGACGCCTGGAACCGGGAGCTGCTGGACAAGTACTGTGTG c.480
I L K Y V N L D A W N R E L L D K Y C V p.160
. . . | 03 . . . g.35053
GCCTACGGCGTGGGCATCATTGGCTTCTTCAAG | GCCAATGAGAACAGCCTGCTGAGTGCG c.540
A Y G V G I I G F F K | A N E N S L L S A p.180
. . . . . . g.35113
CAGCTCAAGGGCTTCCCCCTGTTCCTGCACTCAAACCTGGGCCTGAAGGACTGCAGCATC c.600
Q L K G F P L F L H S N L G L K D C S I p.200
. . . . . . g.35173
AACCCCAAGTCCCCGCTGCTCTACGTGACGCGACCTAGCGAGGTGGAGAAAGGTGTGCTC c.660
N P K S P L L Y V T R P S E V E K G V L p.220
. . . . . . g.35233
CCCGGCGAGGACTGGACGGTTTTCCAGTCAAATCACTCCACCTATGAGCCAGTGCTGCTG c.720
P G E D W T V F Q S N H S T Y E P V L L p.240
. . . . . . g.35293
GCCAAGACGCGCTCGTCTGAGTCCATCCCACACCTGGGCGCAGACGCCGGCCTGCATGCT c.780
A K T R S S E S I P H L G A D A G L H A p.260
. . . . . . g.35353
GCACTGCACGCCACTGTGGTCCAGGACCTGGGCCTGCACGACGGCATCCAGCGCGTGCTG c.840
A L H A T V V Q D L G L H D G I Q R V L p.280
. . . . . . g.35413
TTTGGCAACAACCTGAACTTCTGGCTGCACAAGCTTGTCTTCGTGGATGCCGTGGCCTTC c.900
F G N N L N F W L H K L V F V D A V A F p.300
. . . . . . g.35473
CTCACGGGGAAGCGCCTCTCCCTGCCATTGGACCGCTACATCCTGGTGGACATTGATGAC c.960
L T G K R L S L P L D R Y I L V D I D D p.320
. . . . | 04 . g.40179
ATCTTCGTGGGCAAGGAGGGCACACGCATGAAGGTGGAGGACGTGAAG | GCCCTGTTTGAC c.1020
I F V G K E G T R M K V E D V K | A L F D p.340
. . . . . . g.40239
ACACAGAACGAACTACGCGCACACATCCCAAACTTCACCTTCAACCTGGGCTACTCAGGG c.1080
T Q N E L R A H I P N F T F N L G Y S G p.360
. | 05 . . . . . g.42133
AAATTCTTCCACACAG | GTACCAATGCTGAGGACGCTGGGGATGATCTGCTGCTGTCGTAT c.1140
K F F H T G | T N A E D A G D D L L L S Y p.380
. . . . . . g.42193
GTGAAGGAGTTCTGGTGGTTCCCCCACATGTGGAGCCACATGCAGCCCCACCTTTTCCAC c.1200
V K E F W W F P H M W S H M Q P H L F H p.400
. . . . . | 06 . g.42931
AACCAGTCCGTGTTGGCCGAGCAGATGGCCTTGAACAAGAAGTTCGCTGTC | GAGCATGGC c.1260
N Q S V L A E Q M A L N K K F A V | E H G p.420
. . . . . . g.42991
ATTCCCACAGACATGGGGTATGCAGTGGCGCCCCACCACTCGGGCGTGTACCCCGTGCAC c.1320
I P T D M G Y A V A P H H S G V Y P V H p.440
. . . . . . g.43051
GTGCAGCTGTACGAGGCTTGGAAGCAGGTGTGGAGCATCCGCGTGACCAGCACGGAGGAG c.1380
V Q L Y E A W K Q V W S I R V T S T E E p.460
. . . . . | 07. g.46453
TACCCCCACCTGAAGCCAGCCCGCTACCGCCGTGGCTTCATCCACAATGGCATCATG | GTT c.1440
Y P H L K P A R Y R R G F I H N G I M | V p.480
. . . . . . g.46513
CTCCCACGGCAGACCTGCGGCCTCTTCACACACACCATCTTCTACAACGAGTACCCTGGC c.1500
L P R Q T C G L F T H T I F Y N E Y P G p.500
. . . . . . g.46573
GGCTCCAGTGAGCTGGACAAGATCATCAACGGGGGCGAGCTCTTCCTCACCGTGCTCCTC c.1560
G S S E L D K I I N G G E L F L T V L L p.520
| 08 . . . . . . g.47358
AATCCT | ATCAGCATCTTCATGACGCACCTGTCCAACTATGGGAATGACCGCCTGGGCCTG c.1620
N P | I S I F M T H L S N Y G N D R L G L p.540
. . . . . . g.47418
TACACCTTCAAGCACCTGGTGCGCTTCCTGCACTCCTGGACGAACCTCCGGCTGCAGACA c.1680
Y T F K H L V R F L H S W T N L R L Q T p.560
. . . . . . g.47478
CTGCCCCCTGTGCAGTTGGCGCAGAAGTACTTCCAGATCTTCTCCGAGGAGAAGGACCCG c.1740
L P P V Q L A Q K Y F Q I F S E E K D P p.580
| 09 . . . . . g.48843
CTCTGGCAG | GACCCCTGCGAGGACAAACGTCACAAAGACATCTGGTCCAAGGAGAAGACG c.1800
L W Q | D P C E D K R H K D I W S K E K T p.600
. . . . | 10 . . g.50084
TGTGACCGCTTCCCAAAGCTCCTCATCATCGGCCCCCAGAAAACAG | GCACCACTGCCCTC c.1860
C D R F P K L L I I G P Q K T G | T T A L p.620
. . . . . . g.50144
TACCTGTTCCTGGGCATGCACCCTGACCTAAGCAGCAACTACCCCAGCTCTGAGACCTTT c.1920
Y L F L G M H P D L S S N Y P S S E T F p.640
. . . . . | 11 . g.52544
GAGGAGATCCAGTTTTTTAATGGCCACAACTATCACAAAGGCATCGACTG | GTACATGGAG c.1980
E E I Q F F N G H N Y H K G I D W | Y M E p.660
. . . . . . g.52604
TTCTTCCCCATCCCTTCCAACACCACCTCCGACTTCTACTTTGAGAAAAGCGCCAACTAC c.2040
F F P I P S N T T S D F Y F E K S A N Y p.680
. . . . . . g.52664
TTTGATTCAGAAGTGGCGCCCCGGCGGGCAGCAGCCCTCTTGCCCAAAGCCAAGGTCCTG c.2100
F D S E V A P R R A A A L L P K A K V L p.700
. . . . | 12 . . g.55455
ACCATCCTCATCAACCCCGCGGACCGGGCCTATTCCTGGTACCAG | CACCAGCGAGCCCAT c.2160
T I L I N P A D R A Y S W Y Q | H Q R A H p.720
. . . . . . g.55515
GACGACCCAGTGGCCCTAAAGTACACCTTCCATGAGGTGATTACCGCCGGCTCTGACGCA c.2220
D D P V A L K Y T F H E V I T A G S D A p.740
. . . . . . g.55575
TCCTCGAAGCTGCGTGCCCTCCAGAACCGCTGCCTGGTCCCTGGCTGGTACGCCACCCAC c.2280
S S K L R A L Q N R C L V P G W Y A T H p.760
. . . | 13 . . . g.56924
ATCGAGCGCTGGCTCAGTGCCTATCACGCCAACCAG | ATTCTGGTCTTGGATGGCAAACTG c.2340
I E R W L S A Y H A N Q | I L V L D G K L p.780
. . . . . . g.56984
CTTCGCACAGAACCTGCCAAAGTGATGGACATGGTGCAGAAGTTCCTTGGGGTGACCAAC c.2400
L R T E P A K V M D M V Q K F L G V T N p.800
. . | 14 . . . . g.59009
ACCATTGACTACCACAAAACCTTGGC | GTTTGATCCAAAGAAAGGATTTTGGTGCCAACTG c.2460
T I D Y H K T L A | F D P K K G F W C Q L p.820
. . . . . . g.59069
CTTGAAGGAGGAAAAACCAAGTGTCTGGGCAAAAGCAAGGGCCGGAAATATCCCGAGATG c.2520
L E G G K T K C L G K S K G R K Y P E M p.840
| 15 . . . . . g.60486
GACTTGGAT | TCCCGAGCCTTCCTGAAGGACTATTACCGGGACCACAACATCGAGCTCTCC c.2580
D L D | S R A F L K D Y Y R D H N I E L S p.860
. . . . . . g.60546
AAGCTGCTGTATAAGATGGGCCAGACACTTCCCACTTGGCTACGAGAGGACCTCCAGAAC c.2640
K L L Y K M G Q T L P T W L R E D L Q N p.880
g.60555
ACCAGGTAG c.2649
T R X p.882
. . . . . . g.60615
ccgtggccaccacagccagactgaacgtttgtgaaagctgggacatcccaccacacgctg c.*60
. . . . . . g.60675
agccagacctgcagagtgggaagctggaccagggcagctgcgcacttatgagcaatactc c.*120
. . . . . . g.60735
tgtggaggtctggtggggctgggggagcacccaggcggatctgcaagcacctcggagcac c.*180
. . . . . . g.60795
ccaccgctgggtctgcggcctaagggacctccctcgccagcagaggtccattccgttccc c.*240
. . . . . . g.60855
agctgctcctggggaggccgcttcctggtaggagggagtccacgagactcttttctgtcc c.*300
. . . . . . g.60915
ctcactgtgttccgccgactgtcccctctcgtcacccatcactccctgcttccgcagggc c.*360
. . . . . . g.60975
gcccctcagtattcgctgccatatgtccctgtcctccaggctgtaggggaggagagcctg c.*420
. . . . . . g.61035
gccgggggagacagactggacatttccctgtttcgagccaggctcttccaaggggccagc c.*480
. . . . . . g.61095
tgggtccccggagtcagtcctaggctggatgggagggtggccccctcaagaggactccca c.*540
. . . . . . g.61155
gcctccacatctggttcctaccttcacatctcaccctcccgttctggggaagaatttctg c.*600
. . . . . . g.61215
gttcctacagtatccactccatcctcaaggcttcccgcagggccttggggcactgccttg c.*660
. . . . . . g.61275
ccatcgggcccagttctccgggccccacctgcacccctttcttccccctgggatatgatg c.*720
. . . . . . g.61335
tgtggtgtttcctgtggtaaaagactgaggcaggccaggggtctgccagtaacatgttcc c.*780
. . . . . . g.61395
catgtacagacacggtccccacaccctcccagcctcaggcccaggcagacatgggcgagc c.*840
. . . . . . g.61455
tggtgagactgccagccacggctttgcttagccacctgtggccgagggctctcagagacc c.*900
. . . . . . g.61515
cccttaacctcccaaatactaagaagctaaaatattttaatattttgtttttttttttct c.*960
. . . . . . g.61575
tggtgccagagtttataccctgggtgctggggtcgcactgtgttatatatatatatatat c.*1020
. . . . . . g.61635
atatataatgtgtatatatatatattctattttttttggttgggttcgtttttaattcag c.*1080
. . . . . . g.61695
tcctacaaaatggtggtaagccccagtctcaggggtcaccctgtcttagagctagagatg c.*1140
. . . . . . g.61755
aggtggcagggagggaggctgtgtcctcagtggcctggggctgagcagaccttaggaagg c.*1200
. . . . . . g.61815
ggccctccccagtgccgtggctgctctggggctaccccaggtgaacagaggtggtgagat c.*1260
. . . . . . g.61875
gcgcagggaagaccagctctctccaggacatcgggctgcgtgaagtccagtgaccctgag c.*1320
. . . . . . g.61935
gggattttggccaaaggaaacagccagggctgggctaggagagctggggtcaaaagctgc c.*1380
. . . . . . g.61995
cccacccactctccctcacatggtgctaggctgggagctgccctgagagctgggatgccc c.*1440
. . . . . . g.62055
accaaggcccacagaactgtctccaggcccttgtagacagtgggatctctgggctgattt c.*1500
. . . . . . g.62115
ctggttggggtctgctcctaccccaccccatttaacaatgtgaagtgactgaggctgggg c.*1560
. . . . . . g.62175
tgcctctccctggccccctccaactgccaaattctgcttccctctgaaccccaggaaata c.*1620
. . . . . . g.62235
ctttctggagaggcttgtcttgttcagaagactctagcatcttggggctggaaggtcctt c.*1680
. . . . . . g.62295
tgacgggtatgaaacaggtccagaaaggggaggtggcctgcttggccgacgtcatggagc c.*1740
. . . . . . g.62355
cagctgggagcagggctgagcgttgaacccgaggctcccggttccaagtcccatcgtgct c.*1800
. . . . . . g.62415
cctcttccaatgccacactgcctctgagcccatccttgggaccctactctgtgccaggtt c.*1860
. . . . . . g.62475
cctgtcccttcctccgtcacagcatggtcattccaggatatggggacaaaccactccttc c.*1920
. . . . . . g.62535
ccagccagggtgcctttgagccttctcattccgaggtctgcgtttgcatccctgtcgtgt c.*1980
. . . . . . g.62595
tctccctcgaggggtccttccccagcctgtgggggcctgggtctgttctgagctgattcc c.*2040
. . . . . . g.62655
cttttctccagttctctgctgggatgaagaaagttggacactcagtgggaccagctgcag c.*2100
. . . . . . g.62715
gtggtttcactgtgtacacagcagtgtccccatcatgcctctcaatggggcctgcaagcc c.*2160
. . . . . . g.62775
tgggaacttgggcatcgttgggccagcaggatgagcagcaaagggtctgaggacagggtg c.*2220
. . . . . . g.62835
gcatgtctgcttgtgtgctcatgaagacatgcccacgccatggagccaggggcttataga c.*2280
. . . . . . g.62895
gaggggcagtgacttccagagtcccatccgtcagtgaggggactgggctgcgggatgggt c.*2340
. . . . . . g.62955
gaggatcttacagctcccaggttcggaaatctaccctctaggcctggaggcctctctcgc c.*2400
. . . . . . g.63015
agagcatggaaggcaggagaggtgggctggcctagggcaggagctccacttctctctgcc c.*2460
. . . . . . g.63075
tctggctatgggaaggagcaggcggttggaaatcctgtgacagcagagatcttctggatt c.*2520
. . . . . . g.63135
tttgcctggacccttctgcaagcctggagactggacctgccacatgttccaagtctgtct c.*2580
. . . . . . g.63195
gcctaggtcactgctgccacttctcctcccactaacagacctttcttgaagacccactag c.*2640
. . . . . . g.63255
gtccagacactgccgggacttgcaggtatggggggtagaaggagaggcagataagctgcc c.*2700
. . . . . . g.63315
tggggggctgttagctaatgggtacaaggacaccccctcccgagaagagaagccacagat c.*2760
. . . . . . g.63375
gagtgggccagcgaggccagtcttcaatgtccactaattcactctaagcatttggccaaa c.*2820
. . . . . . g.63435
aaaaggagagagaaataactgaaattgttcaggtggctccatcgtctattctgtggtccc c.*2880
. . . . . . g.63495
ctccatgagcctttgccccagggtgggtgcaggtgcgagtgtcacctgcagctgcctcag c.*2940
. . . . . . g.63555
tcattcagagttccagagccttctgtggtggagcatcctgctgcttggaggatgagtctg c.*3000
. . . . . . g.63615
aagtttaaaaatgggccttttctgagcccccctgatgagcagtcagtgcttctgggccca c.*3060
. . . . . . g.63675
gctaaggaagccatctgttcccagcagaggagagctgctgcgctgacctgcagaggttgg c.*3120
. . . . . . g.63735
tggtcccagcacagagctgtgcccatgggcttgttagtgggaaaagcaaatacaacaatg c.*3180
. . . . . . g.63795
ttttaccaaacatttaattatgaatgcccactccccagcatctagatctaaaattattaa c.*3240
. . . . . . g.63855
cattttgccacattctttttctctctctgtgtatgtatatgttttctctgtcctaattta c.*3300
. . . . . . g.63915
aaagtacattgcaaacatcatgaaacttgatccctgaaagcttcagcctgcatctcctaa c.*3360
. . . . . . g.63975
gagttagggcattgtcctacacattggcccagtatcacagccaagacgagaagtcatttc c.*3420
. . . . . . g.64035
ccagcgatgtctgctatctaatctgtattcaaatccccccaattgtctcccaggtaactt c.*3480
. . . . . . g.64095
atgtgtctggttttggaatcagcatccagtcacggtgcacacattgcattttctaactat c.*3540
. . . . . . g.64155
gtttttaaaacctctttgaatgctgaaaggtcttccctcagctcactttgagtttttaaa c.*3600
. . . . . . g.64215
tgacattgtttttgaggccctaggcctgctgtctttttgaagccccacattctgaatttg c.*3660
. . . . . . g.64275
tcagattgtttgctcatggtgtcgcataaccacttcttctatcccctgtactttcaagga c.*3720
. . . . . . g.64335
taatttaggctacatgagattttgccttttgtgctgacttgacagcttcacttctgccta c.*3780
. . . . . . g.64395
agatgcgcctccactgtcacctgtaccaagtgccaaaacagcagaggggccagttagagc c.*3840
. . . . . . g.64455
aagagctctgggggggccggaaagtctccctggagaaggccgtaatatctgggccttgga c.*3900
. . . . . . g.64515
aggaaggacacagggctctggaaggaggaggctgcatgcctgaaggctgggccttcgacc c.*3960
. . . . . . g.64575
ctggggatgggccacagggcaccaaacacatcatatgtctctctctttctattttggggt c.*4020
. . . . . . g.64635
cccagggttttcatttcctggagacccgtggtctgtgtgcactggagcagagccaggctc c.*4080
. . . . . . g.64695
tcagttgcagcagggaaaagcctacatggggaactgcctcccgcaagctgtggtgtgaga c.*4140
. . . . . . g.64755
agagccctggctggcagcaggagctgtgaagtttcatcccagccgggtgcatttagtagc c.*4200
. . . . . . g.64815
tgcctgaccatcttcctcccaggccctcagtttcttcatctgtagaatgagcagataggg c.*4260
. . . . . . g.64875
gccacagcagggattttcacacatcaaaggaggcagcctctgctctagttgatgtgagga c.*4320
. . . . . . g.64935
tgagggggcggcctagaccccctgctgcccaggccgttgaggcaacactgggttcctggc c.*4380
. . . . . . g.64995
ttgacagctgtgggctggctgcccttgccagctcagacggctggcgagttttcagcttcc c.*4440
. . . . . . g.65055
ctaagggactggcatagggttttgtggggtcaatgccaggaacctgggggaaactggatg c.*4500
. . . . . . g.65115
cgttttatcctaagaagttcatccctcctgctcttactgtttccggccctggaggagaat c.*4560
. . . . . . g.65175
gagggaggagagggttttctatgactgtgttagcttttattattagcaagagggctcctt c.*4620
. . . . . . g.65235
ttgtaatttgtgcatgaaattcatgtcatttcctgggagaggagagggccgactggagag c.*4680
. . . . . . g.65295
ggtggggggcacactggggaagcaggcagaggtttccttcccttgtaggggggtggggag c.*4740
. . . . . . g.65355
agtggggagagggggtgctatccagttcgcctgatgagggctctcgaaccagccgttttg c.*4800
. . . . . . g.65415
ggttgtgttaaaggtgagaccttcctccattaatgtacaatctcgaactaactgctaata c.*4860
. g.65434
aagtggggttctgtttgta c.*4879
(downstream sequence)
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