(used for variant description)
(last modified August 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_152419.2 in the HGSNAT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009552.1, covering HGSNAT transcript NM_152419.2.
(upstream sequence)
. . . . g.5048
agggcggggcgcagcgggcaggcaagggcggccgagcgggcggcgggc c.-1
. . . . . . g.5108
ATGAGCGGGGCGGGCAGGGCGCTGGCCGCGCTGCTGCTGGCCGCGTCCGTGCTGAGCGCC c.60
M S G A G R A L A A L L L A A S V L S A p.20
. . . . . | 02 g.11501
GCGCTGCTGGCCCCCGGCGGCTCTTCGGGGCGCGATGCCCAGGCCGCGCCGCCACGAG | AC c.120
A L L A P G G S S G R D A Q A A P P R D | p.40
. . . . . . g.11561
TTAGACAAAAAAAGACATGCAGAGCTGAAGATGGATCAGGCTTTGCTACTCATCCATAAT c.180
L D K K R H A E L K M D Q A L L L I H N p.60
. . . . . | 03 . g.23132
GAACTTCTCTGGACCAACTTGACCGTCTACTGGAAATCTGAATGCTGTTATCAC | TGCTTG c.240
E L L W T N L T V Y W K S E C C Y H | C L p.80
. . . . . . g.23192
TTTCAGGTTCTGGTAAACGTTCCTCAGAGTCCAAAAGCAGGGAAGCCTAGTGCTGCAGCT c.300
F Q V L V N V P Q S P K A G K P S A A A p.100
. . . . . . g.23252
GCCTCTGTCAGCACCCAGCACGGATCTATCCTGCAGCTGAACGACACCTTGGAAGAGAAA c.360
A S V S T Q H G S I L Q L N D T L E E K p.120
. | 04 . . . . . g.23523
GAAGTTTGTAG | GTTGGAATACAGATTTGGAGAATTTGGAAACTATTCTCTCTTGGTAAAG c.420
E V C R | L E Y R F G E F G N Y S L L V K p.140
. . . . . . g.23583
AACATCCATAATGGAGTTAGTGAAATTGCCTGTGACCTGGCTGTGAACGAGGATCCAGTT c.480
N I H N G V S E I A C D L A V N E D P V p.160
. | 05 . . . . . g.26036
GATAGTAACCTTC | CTGTGAGCATTGCATTCCTTATTGGTCTTGCTGTCATCATTGTGATA c.540
D S N L P | V S I A F L I G L A V I I V I p.180
. . | 06 . . . . g.33761
TCCTTTCTGAGGCTCTTGTTGAG | TTTGGATGACTTTAACAATTGGATTTCTAAAGCCATA c.600
S F L R L L L S | L D D F N N W I S K A I p.200
. . . | 07 . . . g.35163
AGTTCTCGAGAAACTGATCGCCTCATCAATTCT | GAGCTGGGATCTCCCAGCAGGACAGAC c.660
S S R E T D R L I N S | E L G S P S R T D p.220
. . . . . . g.35223
CCTCTCGATGGTGATGTTCAGCCAGCAACGTGGCGTCTATCTGCCCTGCCGCCCCGCCTC c.720
P L D G D V Q P A T W R L S A L P P R L p.240
. . | 08 . . . . g.36898
CGCAGCGTGGACACCTTCAGGGG | GATTGCTCTTATACTCATGGTCTTTGTCAATTATGGA c.780
R S V D T F R G | I A L I L M V F V N Y G p.260
. . . . | 09 . . g.38284
GGAGGAAAATATTGGTACTTCAAACATGCAAGTTGGAATG | GGCTGACAGTGGCTGACCTC c.840
G G K Y W Y F K H A S W N G | L T V A D L p.280
. | 10 . . . . . g.42674
GTGTTCCCGTG | GTTTGTATTTATTATGGGATCTTCCATTTTTCTATCGATGACTTCTATA c.900
V F P W | F V F I M G S S I F L S M T S I p.300
. . . . . . g.42734
CTGCAACGGGGGTGTTCAAAATTCAGATTGCTGGGGAAGATTGCATGGAGGAGTTTCCTG c.960
L Q R G C S K F R L L G K I A W R S F L p.320
. . . . . | 11 . g.46704
TTAATCTGCATAGGAATTATCATTGTGAATCCCAATTATTGCCTTGGTCCAT | TGTCTTGG c.1020
L I C I G I I I V N P N Y C L G P L | S W p.340
. . . . . . g.46764
GACAAGGTGCGCATTCCTGGTGTGCTGCAGCGATTGGGAGTGACATACTTTGTGGTTGCT c.1080
D K V R I P G V L Q R L G V T Y F V V A p.360
. . . . | 12 . g.56037
GTGTTGGAGCTCCTCTTTGCTAAACCTGTGCCTGAACATTGTGCCTCG | GAGAGGAGCTGC c.1140
V L E L L F A K P V P E H C A S | E R S C p.380
. . . . . . g.56097
CTTTCTCTTCGAGACATCACGTCCAGCTGGCCCCAGTGGCTGCTCATCCTGGTGCTGGAA c.1200
L S L R D I T S S W P Q W L L I L V L E p.400
. . . . . | 13 . g.56865
GGCCTGTGGCTGGGCTTGACATTCCTCCTGCCAGTCCCTGGGTGCCCTAC | TGGTTATCTT c.1260
G L W L G L T F L L P V P G C P T | G Y L p.420
. . . . . . g.56925
GGTCCTGGGGGCATTGGAGATTTTGGCAAGTATCCAAATTGCACTGGAGGAGCTGCAGGC c.1320
G P G G I G D F G K Y P N C T G G A A G p.440
. . . . . | 14. g.58311
TACATCGACCGCCTGCTGCTGGGAGACGATCACCTTTACCAGCACCCATCTTCTGCT | GTA c.1380
Y I D R L L L G D D H L Y Q H P S S A | V p.460
. . . . . . g.58371
CTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATC c.1440
L Y H T E V A Y D P E G I L G T I N S I p.480
. . | 15 . . . . g.61535
GTGATGGCCTTTTTAGGAGTTCAG | GCAGGAAAAATACTATTGTATTACAAGGCTCGGACC c.1500
V M A F L G V Q | A G K I L L Y Y K A R T p.500
. . . . | 16 . . g.62241
AAAGACATCCTGATTCGATTCACTGCTTGGTGTTGTATTCTT | GGGCTCATTTCTGTTGCT c.1560
K D I L I R F T A W C C I L | G L I S V A p.520
. . . . . | 17 . g.62398
CTGACGAAGGTTTCTGAAAATGAAGGCTTTATTCCAGTAAACAAAAATCTCTG | GTCCCTT c.1620
L T K V S E N E G F I P V N K N L W | S L p.540
. . . . . . g.62458
TCGTATGTCACTACGCTCAGTTCTTTTGCCTTCTTCATCCTGCTGGTCCTGTACCCAGTT c.1680
S Y V T T L S S F A F F I L L V L Y P V p.560
. . . . | 18 . . g.63953
GTGGATGTGAAGGGGCTGTGGACAGGAACCCCATTCTTTTATCCAG | GAATGAATTCCATT c.1740
V D V K G L W T G T P F F Y P G | M N S I p.580
. . . . . . g.64013
CTGGTATATGTCGGCCACGAGGTGTTTGAGAACTACTTCCCCTTTCAGTGGAAGCTGAAG c.1800
L V Y V G H E V F E N Y F P F Q W K L K p.600
. . . . . . g.64073
GACAACCAGTCCCACAAGGAGCACCTGACTCAGAACATCGTCGCCACTGCCCTCTGGGTG c.1860
D N Q S H K E H L T Q N I V A T A L W V p.620
. . . . g.64121
CTCATTGCCTACATCCTCTATAGAAAGAAGATTTTTTGGAAAATCTGA c.1908
L I A Y I L Y R K K I F W K I X p.635
. . . . . . g.64181
tggctcccactgagatgtgctgctggaagactctagtaggcctgcagggaggactgaagc c.*60
. . . . . . g.64241
agcctttgttaaagggaagcattcattaggaaattgactggctgcgtgtttacagactct c.*120
. . . . . . g.64301
gggggaagacactgatgtcctcaaactggttaactgtgacacggctcgccagaactctgc c.*180
. . . . . . g.64361
ctgtctatttgtgacttacagatttgaaatgtaattgtcttttttcctccatcttctgtg c.*240
. . . . . . g.64421
gaaatggatgtctttggaacttcattccgaggagataagctttaactttccaaaagggaa c.*300
. . . . . . g.64481
ttgccatgggtgtttttcttctgtggtgagtgaaacaatctgaggtctggttcttgctga c.*360
. . . . . . g.64541
ccttgttgccctgcaaacttcctttccacgtgtacgcgcacaccaacacgaaatgccatc c.*420
. . . . . . g.64601
actcctactgcggctgctatgaagcttactggttgtgatgtgttataatttagtctgttt c.*480
. . . . . . g.64661
ttttgattgaatgcagtttaatgtttccagaaagccaaagtaattttcttttcagatatg c.*540
. . . . . . g.64721
caaggctttggtgggtccaaaaaatgtctatcacaagccattttttccttttcctctctc c.*600
. . . . . . g.64781
gaaaagttaaaatatctatgtgttattcccaaaccctcttacctatgtatctgcctgtct c.*660
. . . . . . g.64841
gtccatcatcttccttcctccctatctctgtgtatctggatggcagccgctgcccagggg c.*720
. . . . . . g.64901
agtggctgtggggagggcaggtactgtctttgcctgtgggtccagctgagccatccctgc c.*780
. . . . . . g.64961
tgggtgatgctgggcaagacccttggcccgtctgggccttggcttcctcacttgtgaaat c.*840
. . . . . . g.65021
gagcgggaagatgactctcagttccttccacctcttagacatggtgaggtaacagacatc c.*900
. . . . . . g.65081
aaaagcttttctgaaatcttcagaagaaatagttccattacagaaaactcttcaaaataa c.*960
. . . . . . g.65141
atagtagtgaaaacttttaaaaactctcattggagtaagtcttttcaagatgatcctcca c.*1020
. . . . . . g.65201
caatggaggcagcgttcctacttgtcatcacacagctgaagacattgtttcttaggtgtg c.*1080
. . . . . . g.65261
aaatcggggacaaaggacaaacagagacacacggcattgttcatgggaggcatcgtcacc c.*1140
. . . . . . g.65321
ctcctgggtgttctgtgggaatttcctgtgtgaggaaaacgtggccacagggttgtgctg c.*1200
. . . . . . g.65381
tacccacccttccccggcgagatggccctcggcctgtgccgctgcttccaccctcgccac c.*1260
. . . . . . g.65441
tccatggcagcttttggtctgtttccggctctgccctctgccctgaactctcatccggct c.*1320
. . . . . . g.65501
tgtacctgcctgctggacccctccacctggaggccagcccatgtctcaggcccagcccta c.*1380
. . . . . . g.65561
gcctcttctcctcaaattctaagtgttttctctttaggtttccctggctttgtgaatgga c.*1440
. . . . . . g.65621
tcatgtgtctctaggtataaacctgacatcatctttccacccggcttacctccaccagat c.*1500
. . . . . . g.65681
ctccccagttctgtctccatcttctacctgcagctgctctgttctcatggtcactgctgc c.*1560
. . . . . . g.65741
atcactgagtctggacccttgttatcattttcaaactggcctccttccctcgttccccac c.*1620
. . . . . . g.65801
ttcttaaagtcacctgtccattgccaccagattaagctttctccagccagatcacctctc c.*1680
. . . . . . g.65861
tctgagaaacctccattgacatggaaacaccattgtctggcacacatactcacatactca c.*1740
. . . . . . g.65921
ccttcccgtcttgatccccacacatctttccagcctcccctcccactccactccctgctc c.*1800
. . . . . . g.65981
tctcctccacctccccatcctcttgtctcccctcccctctgaatccagcccagcggggct c.*1860
. . . . . . g.66041
tctcctgcctccatcacatcacagaagtacctcctgcttctggttttaattagagccttc c.*1920
. . . . . . g.66101
cccgattacattttcctctgaattttttcctatctacatttgatctgtcatgtttaaacc c.*1980
. . . . . . g.66161
ccctacttctaagggaacttctctaatctcttatcctcatccccaaatagtgttttcttc c.*2040
. . . . . . g.66221
ctctgggttcttataatgttggtatcaatctcacagcatttagtgcttcctgcctggtgt c.*2100
. . . . . . g.66281
gacagttacctgtgtgcatgtgcaatttctaatttcccacgctagactgtgagcttccta c.*2160
. . . . . . g.66341
aggcaagaatcatgccttgttggtttctgtattcctcatggtgccaaacacagtgccttc c.*2220
. . . . . . g.66401
tacattgcaggcgctgaataaacatttttaaagcaaaatgatgtggatttttaaaataaa c.*2280
. . . . . . g.66461
tatttaagtgctggtaagatgagcatgtatccggggtgcccatgaaatgttcttggggcc c.*2340
. . . . . . g.66521
gtgtggggacagtcgtcattcctcctcctgccacccttttctttcagtgagtcactgtgg c.*2400
. . . . . . g.66581
atggtcccagctgtgtcatcccaaagttcagcagggaaagctgagctgggcctctccagg c.*2460
. . . . . . g.66641
tgagttttctagaagcatttctcaaactgtgggttacatcaacttgggtgtcttgagctg c.*2520
. . . . . . g.66701
taaggaaggaactccggagtcagctgggctacaggggagcttctctaagtcctgcgggag c.*2580
. . . . . . g.66761
gccagacccagcctgagcttgctgttagctagcggaggcagctgctggtggcccaggtgc c.*2640
. . . . . . g.66821
tcgacaccaggcatcccctctcctcccacgaagggtgtgccataatccccttcaacagga c.*2700
. . . . . . g.66881
aatgcttcccagaagcctctcagcagcctcccctcctgtcctatcagctagaagcgcctc c.*2760
. . . . . . g.66941
gcttgtcccaagaccagcagggacagggaactgtccgagcccgtggctgtgtggaggaag c.*2820
. . . . . . g.67001
gcgacccccagcacaagattggtttcctttgggaagggaagagggagtgtgttggggtaa c.*2880
. . . . . . g.67061
ggggtagagcagaggaatggtcagggggcaacaaccgctgacagctgcaacaggtgcatg c.*2940
. . . . . . g.67121
gcatctcacagggaggcagggaggtgcgagctcctaagtaatggagcaaaaaaattctat c.*3000
. . . . . . g.67181
tctgtagaatggggagagaaaatgtgacattttaatttttttttgcatttatattcctaa c.*3060
. . . . . . g.67241
ttcctacttaaagtgaatatactgccgctgtagatcataaaatgtatcttttccatggcc c.*3120
. . . . . . g.67301
aacaaggggcatcttttataaatgcataataacccagtttgtatcaaagggtatcgactt c.*3180
. . . . . . g.67361
aagtgaaatttcaacatgctgttactttttccttttaatgtaattctgttttccaaataa c.*3240
. g.67379
atgggggagacaaatgga c.*3258
(downstream sequence)
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