(used for variant description)
(last modified December 1, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000046.3 in the ARSB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007089.1, covering ARSB transcript NM_000046.3.
(upstream sequence)
. . g.5026
aaaagtgaatacatgattttatttaa c.-1261
. . . . . . g.5086
ctcattaataaggaaattggtaaggtgttaaaaccaattcaaaggacaatccaaagaaca c.-1201
. . . . . . g.5146
gatcaggaatactaaaataaatatgcaagcggaggtgaaactgttttccttggtagtggt c.-1141
. . . . . . g.5206
ggaggggaaggattgctactccgctggataaagttcatttgtgtatatataaataagaat c.-1081
. . . . . . g.5266
tattttccattgttatttatctataacttataaagttgtaaacaacttccacggaatcag c.-1021
. . . . . . g.5326
actcaacctggaagggtatggtctctaggcaatgcaaaaattttcccctacacctgttaa c.-961
. . . . . . g.5386
caactataatatctccagacagagtagacagaaagtctggatggcaacgggaatctactg c.-901
. . . . . . g.5446
gtcatacggctaacttcctaattcaataagcacgtgactaaaggattttttccttccact c.-841
. . . . . . g.5506
cagatatttcaggctaactagatactgtgtgcttcttagtgtcactgcttagtgggggag c.-781
. . . . . . g.5566
ccagctctgagtggggtcatatccggacaagcgaatgagctatttattcaatgaccacgc c.-721
. . . . . . g.5626
aacactccaaatcctcccagggcaacttgaaagtaaccgcaccttccaaagggcaccgtg c.-661
. . . . . . g.5686
caatcagactgtgtgtttggcctcctgtttgctagtggggaggaagcggcttcatgggtg c.-601
. . . . . . g.5746
tacactacgcataaatgaatgtgaaaggctatttagacctctgccttttcaccgtcctcc c.-541
. . . . . . g.5806
cacctgccacaggctgggctcttgtgctagaaatgacttgctagctagacatcatggttc c.-481
. . . . . . g.5866
aggatctgagtcagaggtttaaccatttataagcttttttcttatgaaaaattggcacta c.-421
. . . . . . g.5926
attataatgtctaactgtcagagttgttgcaggctttacaggagacgcgggctgtgaaga c.-361
. . . . . . g.5986
tgctttgtaaattgtgaagcgttattaaagaacacatcttttttttttaggaaaccacag c.-301
. . . . . . g.6046
tgcaaatttaattgccggggaagataacgggccttggtgccctccaagcgtcagctgagt c.-241
. . . . . . g.6106
ttccaagaagccgggcagcgggcgcccgcgggttcgtctctggctcctcctccgccacag c.-181
. . . . . . g.6166
cagccgggggcccgggtcggaggcggcgggggccgagcgcccggcctcgcaagcccacgg c.-121
. . . . . . g.6226
cccgctgggggtgccgtcccgcgccggggcggagcaggccccggcagcccagttcctcat c.-61
. . . . . . g.6286
tctatcagcggtacaaggggctggtggcgccacaggcgctgggaccgcgggcggacaagg c.-1
. . . . . . g.6346
ATGGGTCCGCGCGGCGCGGCGAGCTTGCCCCGAGGCCCCGGACCTCGGCGGCTGCTCCTC c.60
M G P R G A A S L P R G P G P R R L L L p.20
. . . . . . g.6406
CCCGTCGTCCTCCCGCTGCTGCTGCTGCTGTTGTTGGCGCCGCCGGGCTCGGGCGCCGGG c.120
P V V L P L L L L L L L A P P G S G A G p.40
. . . . . . g.6466
GCCAGCCGGCCGCCCCACCTGGTCTTCTTGCTGGCAGACGACCTAGGCTGGAACGACGTC c.180
A S R P P H L V F L L A D D L G W N D V p.60
. . . . . . g.6526
GGCTTCCACGGCTCCCGCATCCGCACGCCGCACCTGGACGCGCTGGCGGCCGGCGGGGTG c.240
G F H G S R I R T P H L D A L A A G G V p.80
. . . . . . g.6586
CTCCTGGACAACTACTACACGCAGCCGCTGTGCACGCCGTCGCGGAGCCAGCTGCTCACT c.300
L L D N Y Y T Q P L C T P S R S Q L L T p.100
. | 02 . . . . . g.22390
GGCCGCTACCAG | ATCCGTACAGGTTTACAGCACCAAATAATCTGGCCCTGTCAGCCCAGC c.360
G R Y Q | I R T G L Q H Q I I W P C Q P S p.120
. . . . . . g.22450
TGTGTTCCTCTGGATGAAAAACTCCTGCCCCAGCTCCTAAAAGAAGCAGGTTATACTACC c.420
C V P L D E K L L P Q L L K E A G Y T T p.140
. . . . . . g.22510
CATATGGTCGGAAAATGGCACCTGGGAATGTACCGGAAAGAATGCCTTCCAACCCGCCGA c.480
H M V G K W H L G M Y R K E C L P T R R p.160
. | 03 . . . . g.26969
GGATTTGATACCTACTTTG | GATATCTCCTGGGTAGTGAAGATTATTATTCCCATGAACGC c.540
G F D T Y F G | Y L L G S E D Y Y S H E R p.180
. . . . . . g.27029
TGTACATTAATTGACGCTCTGAATGTCACACGATGTGCTCTTGATTTTCGAGATGGCGAA c.600
C T L I D A L N V T R C A L D F R D G E p.200
. . . . . . g.27089
GAAGTTGCAACAGGATATAAAAATATGTATTCAACAAACATATTCACCAAAAGGGCTATA c.660
E V A T G Y K N M Y S T N I F T K R A I p.220
. . . | 04 . . . g.36062
GCCCTCATAACTAACCATCCACCAGAGAAG | CCTCTGTTTCTCTACCTTGCTCTCCAGTCT c.720
A L I T N H P P E K | P L F L Y L A L Q S p.240
. . . . . . g.36122
GTGCATGAGCCCCTTCAGGTCCCTGAGGAATACTTGAAGCCATATGACTTTATCCAAGAC c.780
V H E P L Q V P E E Y L K P Y D F I Q D p.260
. . . . . . g.36182
AAGAACAGGCATCACTATGCAGGAATGGTGTCCCTTATGGATGAAGCAGTAGGAAATGTC c.840
K N R H H Y A G M V S L M D E A V G N V p.280
. . . . . | 05 g.105709
ACTGCAGCTTTAAAAAGCAGTGGGCTCTGGAACAACACGGTGTTCATCTTTTCTACAG | AT c.900
T A A L K S S G L W N N T V F I F S T D | p.300
. . . . . . g.105769
AACGGAGGGCAGACTTTGGCAGGGGGTAATAACTGGCCCCTTCGAGGAAGAAAATGGAGC c.960
N G G Q T L A G G N N W P L R G R K W S p.320
. . . . . . g.105829
CTGTGGGAAGGAGGCGTCCGAGGGGTGGGCTTTGTGGCAAGCCCCTTGCTGAAGCAGAAG c.1020
L W E G G V R G V G F V A S P L L K Q K p.340
. . . . . . g.105889
GGCGTGAAGAACCGGGAGCTCATCCACATCTCTGACTGGCTGCCAACACTCGTGAAGCTG c.1080
G V K N R E L I H I S D W L P T L V K L p.360
. . . . . . g.105949
GCCAGGGGACACACCAATGGCACAAAGCCTCTGGATGGCTTCGACGTGTGGAAAACCATC c.1140
A R G H T N G T K P L D G F D V W K T I p.380
| 06 . . . . . . g.152166
AG | TGAAGGAAGCCCATCCCCCAGAATTGAGCTGCTGCATAATATTGACCCGAACTTCGTG c.1200
S | E G S P S P R I E L L H N I D P N F V p.400
. | 07 . . . . . g.209607
GACTCTTCACCGT | GTCCCAGGAACAGCATGGCTCCAGCAAAGGATGACTCTTCTCTTCCA c.1260
D S S P C | P R N S M A P A K D D S S L P p.420
. . . . . . g.209667
GAATATTCAGCCTTTAACACATCTGTCCATGCTGCAATTAGACATGGAAATTGGAAACTC c.1320
E Y S A F N T S V H A A I R H G N W K L p.440
. | 08 . . . . . g.210916
CTCACGGGCTACCCAG | GCTGTGGTTACTGGTTCCCTCCACCGTCTCAATACAATGTTTCT c.1380
L T G Y P G | C G Y W F P P P S Q Y N V S p.460
. . . . . . g.210976
GAGATACCCTCATCAGACCCACCAACCAAGACCCTCTGGCTCTTTGATATTGATCGGGAC c.1440
E I P S S D P P T K T L W L F D I D R D p.480
. . . . . . g.211036
CCTGAAGAAAGACATGACCTGTCCAGAGAATATCCTCACATCGTCACAAAGCTCCTGTCC c.1500
P E E R H D L S R E Y P H I V T K L L S p.500
. . . . . . g.211096
CGCCTACAGTTCTACCATAAACACTCAGTCCCCGTGTACTTCCCTGCACAGGACCCCCGC c.1560
R L Q F Y H K H S V P V Y F P A Q D P R p.520
. . . . g.211138
TGTGATCCCAAGGCCACTGGGGTGTGGGGCCCTTGGATGTAG c.1602
C D P K A T G V W G P W M X p.533
. . . . . . g.211198
gatttcagggaggctagaaaacctttcaattggaagttggacctcaggccttttctcacg c.*60
. . . . . . g.211258
actcttgtctcatttgttatcccaacctgggttcacttggcccttctcttgctcttaaac c.*120
. . . . . . g.211318
cacaccgaggtgtctaatttcaacccctaatgcatttaagaagctgataaaatctgcaac c.*180
. . . . . . g.211378
actcctgctgttggctggagcatgtgtctagaggtgggggtggctgggtttatccccctt c.*240
. . . . . . g.211438
tcctaagccttgggacagctgggaacttaacttgaaataggaagttctcactgaatcctg c.*300
. . . . . . g.211498
gaggctggaacagctggctcttttagactcacaagtcagacgttcgattcccctctgcca c.*360
. . . . . . g.211558
atagccagttttattggagtgaatcacatttcttacgcaaatgaagggagcagacagtga c.*420
. . . . . . g.211618
ttaatggttctgttggccaaggcttctccctgtcggtgaaggatcatgttcaggcactcc c.*480
. . . . . . g.211678
aagtgaaccacccctcttggttcaccccttactcacttatctcatcacagagcataaggc c.*540
. . . . . . g.211738
ccattttgttgttcaggtcaacagcaaaatgcctgcaccatgactgtggcttttaaaata c.*600
. . . . . . g.211798
aagaaatgtgtttttatcgtaatttatttccccccagccattgctcactctgtctagact c.*660
. . . . . . g.211858
tcctgccacttccaattcttctgtggcttttcctgcctttccttttgacctcagtagtcc c.*720
. . . . . . g.211918
tatccctgggaaggccactttgcttctctacctgagcacccctgatttctggaacgctgc c.*780
. . . . . . g.211978
tgagccctgccttacttttgcccctagggctgaagctagaggcctccccgtaataggcgg c.*840
. . . . . . g.212038
tggagttgctctgtgaggatgttcatggtagacactaagagggctgggtgggagatgctt c.*900
. . . . . . g.212098
ggctctgtggcatctgttcagcgaggcttttcctatattgcatggagttagtcattgtga c.*960
. . . . . . g.212158
ttgtagctttatttcataatatattaagacttgcactgctatttactagcagtgagaaga c.*1020
. . . . . . g.212218
aacctcaggaaaggatatgaaaaagcaagtggccagtgtctgggatactgggccttggta c.*1080
. . . . . . g.212278
aagcagaggagggcacacccacagtcctcttattctctgttttactgcttgttttgaggt c.*1140
. . . . . . g.212338
tctggggtctggcaaagaggatgcagtttgacacctgcagccctttctcaatcccactaa c.*1200
. . . . . . g.212398
tgtcttactaatgtggaacagtccatattagctccagagagtgtcaaacccagagaaatg c.*1260
. . . . . . g.212458
tgtgcaaaaatgatactcttttctgcattagccccaccattgtgttcaccaatgcttgga c.*1320
. . . . . . g.212518
acactgcctgaaggcactcattttttaatttttattttatttttaattttttatatcttt c.*1380
. . . . . . g.212578
atgagacgatctcactctgtcaccaggttggagtacagtggtacaatcacaactcaccgt c.*1440
. . . . . . g.212638
agcctcaaactcctgggctcaagtgattctcccacctcaggcacccaaatagctggaact c.*1500
. . . . . . g.212698
acaggcatataccgccacacccagctaattttattttttgaaaagacaaggttccctatg c.*1560
. . . . . . g.212758
ttgcccagctggtcttaaactcctgggctccagcaattatcccagcttgggctccaaaag c.*1620
. . . . . . g.212818
tgctgggattacaggcatgagtcaccatgcctggcctcattttttaaaacaaatgaataa c.*1680
. . . . . . g.212878
atggacaaatgagtaaatgagaaagtctcacaccatgaaagatgctagtccaatgagctg c.*1740
. . . . . . g.212938
aatacagaggtaatataaatgtcttccagctgttgcttttctgttctcaagctgcccctc c.*1800
. . . . . . g.212998
ctggggtaggagcataatctacatcactgggcagtcacaggacactctatagcaaggttg c.*1860
. . . . . . g.213058
tagcgtcctctccagtggggggagaaaaggaactgtgcctaccaaaggtactctcttgtc c.*1920
. . . . . . g.213118
agcaatttccatttctatactttatgggacactagaaactaaaagcaacaaataatctga c.*1980
. . . . . . g.213178
tataagtccttgtatagtcatccttcaattcagtagcaatattttctggtcactactaac c.*2040
. . . . . . g.213238
ctgtattgtattaaaatgagactattggaaggaaatggtgctaaaactaataacatctct c.*2100
. . . . . . g.213298
taccaacctttacccaactcctgggttggcaaacagctgaccaaactgccatcacctccc c.*2160
. . . . . . g.213358
acttggaagtgtatggccgacagcatgaaatagctgagcccagatgttccttctgcatcc c.*2220
. . . . . . g.213418
tccgaatcccagggctgggtgtaggtagccgttggaggccatcgctacagggcacctatc c.*2280
. . . . . . g.213478
tgttatcgctgctgtcctcccaacagctgtctccagttctagttccttggttttcaggca c.*2340
. . . . . . g.213538
cagtgggggatgttctgcacccagtggacttcaaaagagttttgaagacttaattttttg c.*2400
. . . . . . g.213598
taaaacaagtacttgagattttggtttatccataatagaatgtatttcattagattctct c.*2460
. . . . . . g.213658
gattctatataagaatgtgaaaagattgatatattgttgttagaaataatgttatttctt c.*2520
. . . . . . g.213718
tccaattttttttttttttttttttgagatggagtctcgctctgtcacccaggctggagt c.*2580
. . . . . . g.213778
gcagtggtgtgatctcggctcactgcagcctctaactcccaggttcaagctattctcctg c.*2640
. . . . . . g.213838
cctcagcctcccaagtagctggattacaggcatacaccaccacgcctggctatgttttgt c.*2700
. . . . . . g.213898
atttttcgtagagatagggtttcaccatgttggccaggctggtctcaaactcctgacctc c.*2760
. . . . . . g.213958
aagtgatccacccacttcagcttcccaaagcactgggattacaggtgtgagccactgtgc c.*2820
. . . . . . g.214018
ccggcaaatttttttacctttacagaaggttttgcttatttaattgtgagctcatttttc c.*2880
. . . . . . g.214078
tttgttacttttgtccccccagatttgggggacaaaataaaattaatcttttaaaatgtg c.*2940
. . . . . . g.214138
tcagccatatgtatggggcttccatttggggtgaggagaaagttctggaactagatagtg c.*3000
. . . . . . g.214198
gtcatggttatacaacatcataaatgcaattactgccactgaattgtatgttttaaagtg c.*3060
. . . . . . g.214258
gttaaaatgttaagttttatgttttattacaatttttaaatgtgtcaaccaactttatag c.*3120
. . . . . . g.214318
tacataaattatatctcagtaaagctgttaaataaataaatatagtaaaaattttagaac c.*3180
g.214326
taaaaaaa c.*3188
(downstream sequence)
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