(used for variant description)
(last modified September 27, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000153.3 in the GALC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011853.2, covering GALC transcript NM_000153.3.
(upstream sequence)
. . . . g.5339
actcaaaatggcggcggcggcgtcagcatcagcggcctcctgcccgt c.-61
. . . . . . g.5399
atctatcgtggcggcgacgggacccgcctccctgggcgccggagtcatgtgacccacaca c.-1
. . . . . . g.5459
ATGGCTGAGTGGCTACTCTCGGCTTCCTGGCAACGCCGAGCGAAAGCTATGACTGCGGCC c.60
M A E W L L S A S W Q R R A K A M T A A p.20
. . . . . . g.5519
GCGGGTTCGGCGGGCCGCGCCGCGGTGCCCTTGCTGCTGTGTGCGCTGCTGGCGCCCGGC c.120
A G S A G R A A V P L L L C A L L A P G p.40
. . . . . . g.5579
GGCGCGTACGTGCTCGACGACTCCGACGGGCTGGGCCGGGAGTTCGACGGCATCGGCGCG c.180
G A Y V L D D S D G L G R E F D G I G A p.60
. | 02 . . . . . g.10085
GTCAGCGGCGGCGGG | GCAACCTCCCGACTTCTAGTAAATTACCCAGAGCCCTATCGTTCT c.240
V S G G G | A T S R L L V N Y P E P Y R S p.80
. . | 03 . . . . g.10392
CAGATATTGGATTATCTCTTTAAG | CCGAATTTTGGTGCCTCTTTGCATATTTTAAAAGTG c.300
Q I L D Y L F K | P N F G A S L H I L K V p.100
. . | 04 . . . g.11993
GAAATAGGTGGTGATGGGCAGACAACAG | ACGGCACTGAGCCCTCCCACATGCATTATGCA c.360
E I G G D G Q T T D | G T E P S H M H Y A p.120
. . . . . . g.12053
CTAGATGAGAATTATTTCCGAGGATACGAGTGGTGGTTGATGAAAGAAGCTAAGAAGAGG c.420
L D E N Y F R G Y E W W L M K E A K K R p.140
. . | 05 . . . . g.14068
AATCCCAATATTACACTCATTG | GGTTGCCATGGTCATTCCCTGGATGGCTGGGAAAAGGT c.480
N P N I T L I G | L P W S F P G W L G K G p.160
. . . . . . g.14128
TTCGACTGGCCTTATGTCAATCTTCAGCTGACTGCCTATTATGTCGTGACCTGGATTGTG c.540
F D W P Y V N L Q L T A Y Y V V T W I V p.180
. . . . | 06 . . g.16338
GGCGCCAAGCGTTACCATGATTTGGACATTGATTATATTGGA | ATTTGGAATGAGAGGTCA c.600
G A K R Y H D L D I D Y I G | I W N E R S p.200
. . | 07 . . . . g.22114
TATAATGCCAATTATATTAAG | ATATTAAGAAAAATGCTGAATTATCAAGGTCTCCAGCGA c.660
Y N A N Y I K | I L R K M L N Y Q G L Q R p.220
. . . . . . g.22174
GTGAAAATCATAGCAAGTGATAATCTCTGGGAGTCCATCTCTGCATCCATGCTCCTTGAT c.720
V K I I A S D N L W E S I S A S M L L D p.240
. . . | 08 . . . g.30101
GCCGAACTCTTCAAGGTGGTTGATGTTATAGG | GGCTCATTATCCTGGAACCCATTCAGCA c.780
A E L F K V V D V I G | A H Y P G T H S A p.260
. . . . . . g.30161
AAAGATGCAAAGTTGACTGGGAAGAAGCTTTGGTCTTCTGAAGACTTTAGCACTTTAAAT c.840
K D A K L T G K K L W S S E D F S T L N p.280
. . . . . . g.30221
AGTGACATGGGTGCAGGCTGCTGGGGTCGCATTTTAAATCAGAATTATATCAATGGCTAT c.900
S D M G A G C W G R I L N Q N Y I N G Y p.300
| 09 . . . . . g.32986
ATGACTTC | CACAATCGCATGGAATTTAGTGGCTAGTTACTATGAACAGTTGCCTTATGGG c.960
M T S | T I A W N L V A S Y Y E Q L P Y G p.320
. . . . . . g.33046
AGATGCGGGTTGATGACGGCCCAGGAGCCATGGAGTGGGCACTACGTGGTAGAATCTCCT c.1020
R C G L M T A Q E P W S G H Y V V E S P p.340
. | 10 . . . . . g.35099
GTCTGGGTATCAG | CTCATACCACTCAGTTTACTCAACCTGGCTGGTATTACCTGAAGACA c.1080
V W V S A | H T T Q F T Q P G W Y Y L K T p.360
. . . . . . g.35159
GTTGGCCATTTAGAGAAAGGAGGAAGCTACGTAGCTCTGACTGATGGCTTAGGGAACCTC c.1140
V G H L E K G G S Y V A L T D G L G N L p.380
. . | 11 . . . . g.47854
ACCATCATCATTGAAACCATG | AGTCATAAACATTCTAAGTGCATACGGCCATTTCTTCCT c.1200
T I I I E T M | S H K H S K C I R P F L P p.400
. . . . . | 12 . g.48641
TATTTCAATGTGTCACAACAATTTGCCACCTTTGTTCTTAAGGGATCTTTT | AGTGAAATA c.1260
Y F N V S Q Q F A T F V L K G S F | S E I p.420
. . . . . . g.48701
CCAGAGCTACAGGTATGGTATACCAAACTTGGAAAAACATCCGAAAGATTTCTTTTTAAG c.1320
P E L Q V W Y T K L G K T S E R F L F K p.440
. | 13 . . . . g.50727
CAGCTGGATTCTCTATGG | CTCCTTGACAGCGATGGCAGTTTCACACTGAGCCTGCATGAA c.1380
Q L D S L W | L L D S D G S F T L S L H E p.460
. . . . . . g.50787
GATGAGCTGTTCACACTCACCACTCTCACCACTGGTCGCAAAGGCAGCTACCCGCTTCCT c.1440
D E L F T L T T L T T G R K G S Y P L P p.480
. . . . | 14 . g.52841
CCAAAATCCCAGCCCTTCCCAAGTACCTATAAGGATGATTTCAATGTTG | ATTACCCATTT c.1500
P K S Q P F P S T Y K D D F N V D | Y P F p.500
. . . . . . g.52901
TTTAGTGAAGCTCCAAACTTTGCTGATCAAACTGGTGTATTTGAATATTTTACAAATATT c.1560
F S E A P N F A D Q T G V F E Y F T N I p.520
. . . . . . g.52961
GAAGACCCTGGCGAGCATCACTTCACGCTACGCCAAGTTCTCAACCAGAGACCCATTACG c.1620
E D P G E H H F T L R Q V L N Q R P I T p.540
. . . . . | 15 . g.57015
TGGGCTGCCGATGCATCCAACACAATCAGTATTATAGGAGACTACAACTG | GACCAATCTG c.1680
W A A D A S N T I S I I G D Y N W | T N L p.560
. . . . . . g.57075
ACTATAAAGTGTGATGTATACATAGAGACCCCTGACACAGGAGGTGTGTTCATTGCAGGA c.1740
T I K C D V Y I E T P D T G G V F I A G p.580
. . . . . . g.57135
AGAGTAAATAAAGGTGGTATTTTGATTAGAAGTGCCAGAGGAATTTTCTTCTGGATTTTT c.1800
R V N K G G I L I R S A R G I F F W I F p.600
. . . | 16 . . . g.58608
GCAAATGGATCTTACAGGGTTACAGGTGATTTAG | CTGGATGGATTATATATGCTTTAGGA c.1860
A N G S Y R V T G D L A | G W I I Y A L G p.620
. . . . . | 17 . g.63694
CGTGTTGAAGTTACAGCAAAAAAATGGTATACACTCACGTTAACTATTAAG | GGTCATTTC c.1920
R V E V T A K K W Y T L T L T I K | G H F p.640
. . . . . . g.63754
ACCTCTGGCATGCTGAATGACAAGTCTCTGTGGACAGACATCCCTGTGAATTTTCCAAAG c.1980
T S G M L N D K S L W T D I P V N F P K p.660
. . . . . . g.63814
AATGGCTGGGCTGCAATTGGAACTCACTCCTTTGAATTTGCACAGTTTGACAACTTTCTT c.2040
N G W A A I G T H S F E F A Q F D N F L p.680
. g.63832
GTGGAAGCCACACGCTAA c.2058
V E A T R X p.685
. . . . . . g.63892
tacttaacagggcatcatagaatactctggattttcttcccttctttttggttttggttc c.*60
. . . . . . g.63952
agagccaattcttgtttcattggaacagtatatgaggcttttgagactaaaaataatgaa c.*120
. . . . . . g.64012
gagtaaaaggggagagaaatttatttttaatttaccctgtggaagattttattagaatta c.*180
. . . . . . g.64072
attccaaggggaaaactggtgaatctttaacattacctggtgtgttccctaacattcaaa c.*240
. . . . . . g.64132
ctgtgcattggccatacccttaggagtggtttgagtagtacagacctcgaagccttgctg c.*300
. . . . . . g.64192
ctaacactgaggtagctctcttcatcttatttgcaagcggtcctgtagatggcagtaact c.*360
. . . . . . g.64252
tgatcatcactgagatgtatttatgcatgctgaccgtgtgtccaagtgagccagtgtctt c.*420
. . . . . . g.64312
catcacaagatgatgctgccataatagaaagctgaagaacactagaagtagctttttgaa c.*480
. . . . . . g.64372
aaccacttcaacctgttatgctttatgctctaaaaagtatttttttattttcctttttaa c.*540
. . . . . . g.64432
gatgatacttttgaaatgcaggatatgatgagtgggatgattttaaaaatgcctctttaa c.*600
. . . . . . g.64492
taaactacctctaacactatttctgcagtaatagatattagcagattaattgggttattt c.*660
. . . . . . g.64552
gcattatttaatttttttgattccaagttttggtcttgtaaccactataactctctgtga c.*720
. . . . . . g.64612
acgtttttccaggtggctggaagaaggaagaaaacctgatatagccaatgctgttgtagt c.*780
. . . . . . g.64672
cgtttcctcagcctcatctcactgtgctgtggtctgtcctcacatgtgcactggtaacag c.*840
. . . . . . g.64732
actcacacagctgatgaatgcttttctctccttatgtgtggaaggaggggagcacttaga c.*900
. . . . . . g.64792
catttgctaactcccagaattggatcatctcctaagatgtacttactttttaaagtccaa c.*960
. . . . . . g.64852
atatgtttatatttaaatatacgtgagcgtgttcatcatgttgtatgatttatactaagc c.*1020
. . . . . . g.64912
attaatgtggctctatgtagcaaatcagttattcatgtaggtaaagtaaatctagaatta c.*1080
. . . . . . g.64972
tttataagaattactcattgaactaattctactatttaggaatttgtaagagtctaacat c.*1140
. . . . . . g.65032
aggcttagctacagtgaagttttgcattgcttttgaagacaagaagataagtgctagaat c.*1200
. . . . . . g.65092
aaataagattacagagaaaattttttgttaaaaccaagtgatttccagctgatgtatcta c.*1260
. . . . . . g.65152
atattttttaaaacgaacattatagaggtgtaatttatttacaataaaatgttcctactt c.*1320
. . . . . . g.65212
taaatatacaattcagtgagttttgataaattgatatacccatgtaaccaacactccagt c.*1380
. . . . . . g.65272
caagcttcagaatatttccatcaccccagaaggttctcttgtatacctgctcagtcagtt c.*1440
. . . . . . g.65332
cctttcactcccaattgttggcagccattgataggaattctatcactataggttagtttt c.*1500
. . . . . . g.65392
ctttgttccagaacatcatgaaagcggcgtcatgtactgtgtattcttatgaatggtttc c.*1560
. . . . . . g.65452
tttccatcagcataatgatttgagatttgtccatgttgtgtgattcagtggtttgttcct c.*1620
. . . . . . g.65512
tcttatttctgaagagttttccattgtatgaatataccacaatttgtttcctccccacca c.*1680
. . . g.65550
gtttctgatactacaattaaaactgtctacatttacaa c.*1718
(downstream sequence)
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