(used for variant description)
(last modified June 12, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000520.4 in the HEXA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009017.1, covering HEXA transcript NM_000520.4.
(upstream sequence)
. . g.5027
agttgccgacgcccggcacaatccgct c.-181
. . . . . . g.5087
gcacgtagcaggagcctcaggtccaggccggaagtgaaagggcagggtgtgggtcctcct c.-121
. . . . . . g.5147
ggggtcgcaggcgcagagccgcctctggtcacgtgattcgccgataagtcacgggggcgc c.-61
. . . . . . g.5207
cgctcacctgaccagggtctcacgtggccagccccctccgagaggggagaccagcgggcc c.-1
. . . . . . g.5267
ATGACAAGCTCCAGGCTTTGGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCAGGACGGGCG c.60
M T S S R L W F S L L L A A A F A G R A p.20
. . . . . . g.5327
ACGGCCCTCTGGCCCTGGCCTCAGAACTTCCAAACCTCCGACCAGCGCTACGTCCTTTAC c.120
T A L W P W P Q N F Q T S D Q R Y V L Y p.40
. . . . . . g.5387
CCGAACAACTTTCAATTCCAGTACGATGTCAGCTCGGCCGCGCAGCCCGGCTGCTCAGTC c.180
P N N F Q F Q Y D V S S A A Q P G C S V p.60
. . . . . . g.5447
CTCGACGAGGCCTTCCAGCGCTATCGTGACCTGCTTTTCGGTTCCGGGTCTTGGCCCCGT c.240
L D E A F Q R Y R D L L F G S G S W P R p.80
. | 02 . . . . . g.24609
CCTTACCTCACAG | GGAAACGGCATACACTGGAGAAGAATGTGTTGGTTGTCTCTGTAGTC c.300
P Y L T G | K R H T L E K N V L V V S V V p.100
. . . . | 03 . . g.25569
ACACCTGGATGTAACCAGCTTCCTACTTTGGAGTCAGTGGAGAATT | ATACCCTGACCATA c.360
T P G C N Q L P T L E S V E N Y | T L T I p.120
. . . . . | 04 . g.27450
AATGATGACCAGTGTTTACTCCTCTCTGAGACTGTCTGGGGAGCTCTCCGAG | GTCTGGAG c.420
N D D Q C L L L S E T V W G A L R G | L E p.140
. . . | 05 . . g.28022
ACTTTTAGCCAGCTTGTTTGGAAATCTGCTGAGGGCACA | TTCTTTATCAACAAGACTGAG c.480
T F S Q L V W K S A E G T | F F I N K T E p.160
. . . . . . g.28082
ATTGAGGACTTTCCCCGCTTTCCTCACCGGGGCTTGCTGTTGGATACATCTCGCCATTAC c.540
I E D F P R F P H R G L L L D T S R H Y p.180
. . . | 06 . . . g.29975
CTGCCACTCTCTAGCATCCTGGACACTCTG | GATGTCATGGCGTACAATAAATTGAACGTG c.600
L P L S S I L D T L | D V M A Y N K L N V p.200
. . . . . . g.30035
TTCCACTGGCATCTGGTAGATGATCCTTCCTTCCCATATGAGAGCTTCACTTTTCCAGAG c.660
F H W H L V D D P S F P Y E S F T F P E p.220
. | 07 . . . . . g.30577
CTCATGAGAAAG | GGGTCCTACAACCCTGTCACCCACATCTACACAGCACAGGATGTGAAG c.720
L M R K | G S Y N P V T H I Y T A Q D V K p.240
. . . . . . g.30637
GAGGTCATTGAATACGCACGGCTCCGGGGTATCCGTGTGCTTGCAGAGTTTGACACTCCT c.780
E V I E Y A R L R G I R V L A E F D T P p.260
. . | 08 . . . . g.31955
GGCCACACTTTGTCCTGGGGACCAG | GTATCCCTGGATTACTGACTCCTTGCTACTCTGGG c.840
G H T L S W G P G | I P G L L T P C Y S G p.280
. . . . . . g.32015
TCTGAGCCCTCTGGCACCTTTGGACCAGTGAATCCCAGTCTCAATAATACCTATGAGTTC c.900
S E P S G T F G P V N P S L N N T Y E F p.300
. . . . . . g.32075
ATGAGCACATTCTTCTTAGAAGTCAGCTCTGTCTTCCCAGATTTTTATCTTCATCTTGGA c.960
M S T F F L E V S S V F P D F Y L H L G p.320
. . | 09 . . . . g.33079
GGAGATGAGGTTGATTTCACCTGCTG | GAAGTCCAACCCAGAGATCCAGGACTTTATGAGG c.1020
G D E V D F T C W | K S N P E I Q D F M R p.340
. . . . . | 10 . g.33428
AAGAAAGGCTTCGGTGAGGACTTCAAGCAGCTGGAGTCCTTCTACATCCAGAC | GCTGCTG c.1080
K K G F G E D F K Q L E S F Y I Q T | L L p.360
. . . . . . g.33488
GACATCGTCTCTTCTTATGGCAAGGGCTATGTGGTGTGGCAGGAGGTGTTTGATAATAAA c.1140
D I V S S Y G K G Y V V W Q E V F D N K p.380
| 11 . . . . . . g.34523
GTAAAG | ATTCAGCCAGACACAATCATACAGGTGTGGCGAGAGGATATTCCAGTGAACTAT c.1200
V K | I Q P D T I I Q V W R E D I P V N Y p.400
. . . . . . g.34583
ATGAAGGAGCTGGAACTGGTCACCAAGGCCGGCTTCCGGGCCCTTCTCTCTGCCCCCTGG c.1260
M K E L E L V T K A G F R A L L S A P W p.420
. . . . . . g.34643
TACCTGAACCGTATATCCTATGGCCCTGACTGGAAGGATTTCTACATAGTGGAACCCCTG c.1320
Y L N R I S Y G P D W K D F Y I V E P L p.440
. | 12 . . . . . g.34904
GCATTTGAAG | GTACCCCTGAGCAGAAGGCTCTGGTGATTGGTGGAGAGGCTTGTATGTGG c.1380
A F E G | T P E Q K A L V I G G E A C M W p.460
. . . . | 13 . . g.35648
GGAGAATATGTGGACAACACAAACCTGGTCCCCAGGCTCTG | GCCCAGAGCAGGGGCTGTT c.1440
G E Y V D N T N L V P R L W | P R A G A V p.480
. . . . . . g.35708
GCCGAAAGGCTGTGGAGCAACAAGTTGACATCTGACCTGACATTTGCCTATGAACGTTTG c.1500
A E R L W S N K L T S D L T F A Y E R L p.500
. . | 14 . . . . g.37073
TCACACTTCCGCTGTGAATTGCTGAG | GCGAGGTGTCCAGGCCCAACCCCTCAATGTAGGC c.1560
S H F R C E L L R | R G V Q A Q P L N V G p.520
. . . g.37103
TTCTGTGAGCAGGAGTTTGAACAGACCTGA c.1590
F C E Q E F E Q T X p.529
. . . . . . g.37163
gccccaggcaccgaggagggtgctggctgtaggtgaatggtagtggagccaggcttccac c.*60
. . . . . . g.37223
tgcatcctggccaggggacggagccccttgccttcgtgccccttgcctgcgtgcccctgt c.*120
. . . . . . g.37283
gcttggagagaaaggggccggtgctggcgctcgcattcaataaagagtaatgtggcattt c.*180
. . . . . . g.37343
ttctataataaacatggattacctgtgtttaaaaaaaaaagtgtgaatggcgttagggta c.*240
. . . . . . g.37403
agggcacagccaggctggagtcagtgtctgcccctgaggtcttttaagttgagggctggg c.*300
. . . . . . g.37463
aatgaaacctatagcctttgtgctgttctgccttgcctgtgagctatgtcactcccctcc c.*360
. . . . . . g.37523
cactcctgaccatattccagacacctgccctaatcctcagcctgctcacttcacttctgc c.*420
. . . . . . g.37583
attatatctccaaggcgttggtatatggaaaaagatgtaggggcttggaggtgttctgga c.*480
. . . . . . g.37643
cagtggggagggctccagacccaacctggtcacagaagagcctctcccccatgcatactc c.*540
. . . . . . g.37703
atccacctccctcccctagagctattctcctttgggtttcttgctgcttcaattttatac c.*600
. . . . g.37743
aaccattatttaaatattattaaacacatattgttctcta c.*640
(downstream sequence)
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