(used for variant description)
(last modified July 25, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000048.3 in the ASL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009288.1, covering ASL transcript NM_000048.3.
(upstream sequence)
. . . . . g.5051
gacgccatcccggccagaaaagccctggccagtggcgggcgcgacactatc c.-61
. . | 02 . . . . g.5293
cgtgcggccaggcggag | acccggaggaccgaagcttccggacgacgaggaaccgcccaac c.-1
. | 03 . . . . . g.11062
ATGGCCTCGGAG | AGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATC c.60
M A S E | S G K L W G G R F V G A V D P I p.20
. . . . . . g.11122
ATGGAGAAGTTCAACGCGTCCATTGCCTACGACCGGCACCTTTGGGAGGTGGATGTTCAA c.120
M E K F N A S I A Y D R H L W E V D V Q p.40
. . . . . . g.11182
GGCAGCAAAGCCTACAGCAGGGGCCTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATG c.180
G S K A Y S R G L E K A G L L T K A E M p.60
. . | 04. . . . g.11612
GACCAGATACTCCATGGCCTAGACAAG | GTGGCTGAGGAGTGGGCCCAGGGCACCTTCAAA c.240
D Q I L H G L D K | V A E E W A Q G T F K p.80
. . . . . | 05 . g.12100
CTGAACTCCAATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAG | GAGCTCATT c.300
L N S N D E D I H T A N E R R L K | E L I p.100
. . . . | 06 . g.12300
GGTGCAACGGCAGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAG | GTGGTCACAGAC c.360
G A T A G K L H T G R S R N D Q | V V T D p.120
. . . . . . g.12360
CTCAGGCTGTGGATGCGGCAGACCTGCTCCACGCTCTCGGGCCTCCTCTGGGAGCTCATT c.420
L R L W M R Q T C S T L S G L L W E L I p.140
. . | 07 . . . . g.15830
AGGACCATGGTGGATCGGGCAGAGGC | GGAACGTGATGTTCTCTTCCCGGGGTACACCCAT c.480
R T M V D R A E A | E R D V L F P G Y T H p.160
. . . . | 08 . . g.15971
TTGCAGAGGGCCCAGCCCATCCGCTGGAGCCACTGGATTCTGAG | CCACGCCGTGGCACTG c.540
L Q R A Q P I R W S H W I L S | H A V A L p.180
. . . . . . g.16031
ACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGG c.600
T R D S E R L L E V R K R I N V L P L G p.200
| 09 . . . . . | 10 . g.16945
AG | TGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAG | AACTC c.660
S | G A I A G N P L G V D R E L L R A E | L p.220
. . . . . | 11 g.18020
AACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGG | CC c.720
N F G A I T L N S M D A T S E R D F V A | p.240
. . . . . . g.18080
GAGTTCCTGTTCTGGGCTTCGCTGTGCATGACCCATCTCAGCAGGATGGCCGAGGACCTC c.780
E F L F W A S L C M T H L S R M A E D L p.260
. . . . . | 12 . g.18309
ATCCTCTACTGCACCAAGGAATTCAGCTTCGTGCAGCTCTCAGATGCCTACAG | CACGGGA c.840
I L Y C T K E F S F V Q L S D A Y S | T G p.280
. . . . . . g.18369
AGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCT c.900
S S L M P Q K K N P D S L E L I R S K A p.300
. | 13 . . . . g.18529
GGGCGTGTGTTTGGGCGG | TGTGCCGGGCTCCTGATGACCCTCAAGGGACTTCCCAGCACC c.960
G R V F G R | C A G L L M T L K G L P S T p.320
. | 14 . . . . g.18865
TACAACAAAGACTTACAG | GAGGACAAGGAAGCTGTGTTTGAAGTGTCAGACACTATGAGT c.1020
Y N K D L Q | E D K E A V F E V S D T M S p.340
. . . . | 15 . . g.21235
GCCGTGCTCCAGGTGGCCACTGGCGTCATCTCTACGCTGCAG | ATTCACCAAGAGAACATG c.1080
A V L Q V A T G V I S T L Q | I H Q E N M p.360
. . . . . . g.21295
GGACAGGCTCTCAGCCCCGACATGCTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAA c.1140
G Q A L S P D M L A T D L A Y Y L V R K p.380
| 16 . . . . . . g.21825
GGG | ATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTGTGTTCATGGCCGAGACC c.1200
G | M P F R Q A H E A S G K A V F M A E T p.400
. . . . . | 17 . g.21989
AAGGGGGTCGCCCTCAACCAGCTGTCACTGCAGGAGCTGCAGACCATCAG | CCCCCTGTTC c.1260
K G V A L N Q L S L Q E L Q T I S | P L F p.420
. . . . . . g.22049
TCGGGCGACGTGATCTGCGTGTGGGACTACGGGCACAGTGTGGAGCAGTATGGTGCCCTG c.1320
S G D V I C V W D Y G H S V E Q Y G A L p.440
. . . . . . g.22109
GGCGGCACTGCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGCGGGCGCTACTGCAG c.1380
G G T A R S S V D W Q I R Q V R A L L Q p.460
. g.22124
GCACAGCAGGCCTAG c.1395
A Q Q A X p.464
. . . . . . g.22184
gtcctcccacacctgccccctaataaagtgggcgcgagaggaggctgctgtgtgtttcct c.*60
. . . . . . g.22244
gccccagcctggctccctcgttgctgggctttcggggctggccagtggggacagtcaggg c.*120
. . . . . . g.22304
actggagaggcagggcagggtggcctgtaatcccagcactttggaagggcaaggtgcgag c.*180
. . . . . . g.22364
gatgcttgaggccaggagtttgacacagcctgggcaacacagggagacccccatctctac c.*240
. . . . . . g.22424
tcaataataaaacaaatagcctggcgtggtggcccatgcatatagtcccagctacttgta c.*300
. . . . . . g.22484
aggctgaggtgagaggacacttgtgcccaggagtggaggctgcagtgagctatgatcacg c.*360
. . . . . . g.22544
ccactgcattccagcctggataacagagtgagaacctatctctaaaaataaataaataaa c.*420
. g.22555
cgaaaaataaa c.*431
(downstream sequence)
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