(used for variant description)
(last modified January 25, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_014960.4 in the ARSG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering ARSG transcript NM_014960.4.
(upstream sequence)
. g.5016
ggctgcgcccaggccg c.-781
. . . . . . g.5076
gcgggcccagcagctgcgaaccgccggcgcaccacctgtttccgcgcccggggacttccc c.-721
. . . . . . g.5136
cggcggggctcagaagtgtgggatcggtcgcttggcttcccctggcgtcagcgacccagg c.-661
. . . . . . g.5196
gtaacctcctccactgctgcgtgccgtgcaggcctgcctgtgtgagagccacgtgtgccg c.-601
. . . . . | 02 g.52772
cgctctgggcacagccttggaaagtcaggaccgcgacggcagcagagca | gaaaccttaca c.-541
. . . . . . g.52832
gaaacatgaagccctcaaccatctgctactcagttattcggggctgacggcggcttctag c.-481
. . . . . . g.52892
aacatccaggtgttctgcagatgcgagaactcatcctgtagtcaccagatggagtcccaa c.-421
. . . . . . g.52952
acagccaagcagatgtaaggcctgtgctgtggctctgaggccctgaatacagaagggtca c.-361
. . . . . . g.53012
ctttcttagtggccaaagagcagttgttgacattgatgtctaattattgaacacgaccag c.-301
. . . . . . g.53072
tcattttactgagctgcggtgaggaaacactgaccatagaagatcaagccaaatgaggga c.-241
. . . . . . g.53132
ttgcaaatttcctgattcttttgaattaggattccagatgggggcctcatttctacagcc c.-181
. . . . . . g.53192
cccaacattcctatagccgttatcactgccatcaccactgccaccagcatcttcttgcag c.-121
. . . . . . g.53252
attccacccctgctccccagagacttcctgctttgaaagtgagcagaaaggaagctctca c.-61
. . . . . . g.53312
gaaaaatctctagtggtggctgccgtcgctccagacaatcggaatcctgccttcaccacc c.-1
. . . . . . g.53372
ATGGGCTGGCTTTTTCTAAAGGTTTTGTTGGCGGGAGTGAGTTTCTCAGGATTTCTTTAT c.60
M G W L F L K V L L A G V S F S G F L Y p.20
. . . . . . g.53432
CCTCTTGTGGATTTTTGCATCAGTGGGAAAACAAGAGGACAGAAGCCAAACTTTGTGATT c.120
P L V D F C I S G K T R G Q K P N F V I p.40
. . . . . . g.53492
ATTTTGGCCGATGACATGGGGTGGGGTGACCTGGGAGCAAACTGGGCAGAAACAAAGGAC c.180
I L A D D M G W G D L G A N W A E T K D p.60
. . . | 03 . . g.89444
ACTGCCAACCTTGATAAGATGGCTTCGGAGGGAATGAG | GTTTGTGGATTTCCATGCAGCT c.240
T A N L D K M A S E G M R | F V D F H A A p.80
. . . . . . g.89504
GCCTCCACCTGCTCACCCTCCCGGGCTTCCTTGCTCACCGGCCGGCTTGGCCTTCGCAAT c.300
A S T C S P S R A S L L T G R L G L R N p.100
. . . . . . g.89564
GGAGTCACACGCAACTTTGCAGTCACTTCTGTGGGAGGCCTTCCGCTCAACGAGACCACC c.360
G V T R N F A V T S V G G L P L N E T T p.120
. . . . | 04 . . g.92957
TTGGCAGAGGTGCTGCAGCAGGCGGGTTACGTCACTGGGATAATAG | GCAAATGGCATCTT c.420
L A E V L Q Q A G Y V T G I I G | K W H L p.140
. . . | 05 . . . g.97419
GGACACCACGGCTCTTATCACCCCAACTTCCGTG | GTTTTGATTACTACTTTGGAATCCCA c.480
G H H G S Y H P N F R G | F D Y Y F G I P p.160
. . . . . . g.97479
TATAGCCATGATATGGGCTGTACTGATACTCCAGGCTACAACCACCCTCCTTGTCCAGCG c.540
Y S H D M G C T D T P G Y N H P P C P A p.180
. . | 06 . . . . g.102519
TGTCCACAGGGTGATGGACCATCAAG | GAACCTTCAAAGAGACTGTTACACTGACGTGGCC c.600
C P Q G D G P S R | N L Q R D C Y T D V A p.200
. . . . . . g.102579
CTCCCTCTTTATGAAAACCTCAACATTGTGGAGCAGCCGGTGAACTTGAGCAGCCTTGCC c.660
L P L Y E N L N I V E Q P V N L S S L A p.220
. . . . | 07 . . g.114382
CAGAAGTATGCTGAGAAAGCAACCCAGTTCATCCAGCGTGCAAG | CACCAGCGGGAGGCCC c.720
Q K Y A E K A T Q F I Q R A S | T S G R P p.240
. . . . . . g.114442
TTCCTGCTCTATGTGGCTCTGGCCCACATGCACGTGCCCTTACCTGTGACTCAGCTACCA c.780
F L L Y V A L A H M H V P L P V T Q L P p.260
. . . . . . g.114502
GCAGCGCCACGGGGCAGAAGCCTGTATGGTGCAGGGCTCTGGGAGATGGACAGTCTGGTG c.840
A A P R G R S L Y G A G L W E M D S L V p.280
. . . . . . g.114562
GGCCAGATCAAGGACAAAGTTGACCACACAGTGAAGGAAAACACATTCCTCTGGTTTACA c.900
G Q I K D K V D H T V K E N T F L W F T p.300
| 08 . . . . . . g.116321
G | GAGACAATGGCCCGTGGGCTCAGAAGTGTGAGCTAGCGGGCAGTGTGGGTCCCTTCACT c.960
G | D N G P W A Q K C E L A G S V G P F T p.320
. . | 09 . . . . g.130920
GGATTTTGGCAAACTCGTCAAG | GGGGAAGTCCAGCCAAGCAGACGACCTGGGAAGGAGGG c.1020
G F W Q T R Q G | G S P A K Q T T W E G G p.340
. . . . . . g.130980
CACCGGGTCCCAGCACTGGCTTACTGGCCTGGCAGAGTTCCAGTTAATGTCACCAGCACT c.1080
H R V P A L A Y W P G R V P V N V T S T p.360
. | 10 . . . . . g.140940
GCCTTGTTAAG | CGTGCTGGACATTTTTCCAACTGTGGTAGCCCTGGCCCAGGCCAGCTTA c.1140
A L L S | V L D I F P T V V A L A Q A S L p.380
. . . . . . g.141000
CCTCAAGGACGGCGCTTTGATGGTGTGGACGTCTCCGAGGTGCTCTTTGGCCGGTCACAG c.1200
P Q G R R F D G V D V S E V L F G R S Q p.400
. | 11 . . . . . g.147226
CCTGGGCACAGG | GTGCTGTTCCACCCCAACAGCGGGGCAGCTGGAGAGTTTGGAGCCCTG c.1260
P G H R | V L F H P N S G A A G E F G A L p.420
. . . . | 12 . . g.166024
CAGACTGTCCGCCTGGAGCGTTACAAGGCCTTCTACATTACCG | GTGGAGCCAGGGCGTGT c.1320
Q T V R L E R Y K A F Y I T G | G A R A C p.440
. . . . . . g.166084
GATGGGAGCACGGGGCCTGAGCTGCAGCATAAGTTTCCTCTGATTTTCAACCTGGAAGAC c.1380
D G S T G P E L Q H K F P L I F N L E D p.460
. . . . . . g.166144
GATACCGCAGAAGCTGTGCCCCTAGAAAGAGGTGGTGCGGAGTACCAGGCTGTGCTGCCC c.1440
D T A E A V P L E R G G A E Y Q A V L P p.480
. . . . . . g.166204
GAGGTCAGAAAGGTTCTTGCAGACGTCCTCCAAGACATTGCCAACGACAACATCTCCAGC c.1500
E V R K V L A D V L Q D I A N D N I S S p.500
. . . . . . g.166264
GCAGATTACACTCAGGACCCTTCAGTAACTCCCTGCTGTAATCCCTACCAAATTGCCTGC c.1560
A D Y T Q D P S V T P C C N P Y Q I A C p.520
. g.166282
CGCTGTCAAGCCGCATAA c.1578
R C Q A A X p.525
. . . . . . g.166342
cagaccaatttttattccacgaggaggagtacctggaaattaggcaagtttgcttccaaa c.*60
. . . . . . g.166402
tttcatttttaccctctttacaaacacacgctttagtttagtcttggagtttagttttgg c.*120
. . . . . . g.166462
agttagccttgcatatcccttctgtatcctgtccctcctccacgccgacccgagagcagc c.*180
. . . . . . g.166522
tgagctgcgctggctctgggcagggagtgtgccttaatgggaagcacacgggctttggag c.*240
. . . . . . g.166582
tcaggcacaggtgccagctccagcttttgaacttgggcaattgtttaacctaacctgcaa c.*300
. . . . . . g.166642
gttgattttgagggttaaataaaggcatacatgaaaatgcctggcaaattacctgacaca c.*360
. . . g.166678
gagcagacattcaatacattttagtttccttgtttc c.*396
(downstream sequence)
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