(used for variant description)
(last modified June 17, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004539.3 in the NARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000018.9, covering NARS transcript NM_004539.3.
(upstream sequence)
. . . . g.5048
atccggaagttgcctctgccctcaccaaagatggcggccccggcgccg c.-181
. . . . . . g.5108
ctcgcccacctctcgtaaccaatggaaccgcggcgctcggccgattctcgcaggcgccct c.-121
. . . . . . g.5168
cagatctacgctctctgatgcaacgccggaatcgcggaaaccgccggtgcacgttggagt c.-61
. . . . . . g.5228
cataagacggcgtcggtgttgcagtctgtgtccttggaggtgaccagggccactgcaggc c.-1
. | 02 . . . . . g.6344
ATGGTGCTAG | CAGAGCTGTACGTCTCTGACCGAGAGGGAAGCGATGCCACGGGAGATGGA c.60
M V L A | E L Y V S D R E G S D A T G D G p.20
. . . | 03 . . . g.10997
ACCAAGGAGAAACCATTTAAAACAGGTCTAAAG | GCTTTGATGACAGTAGGGAAAGAACCA c.120
T K E K P F K T G L K | A L M T V G K E P p.40
. . . . . . g.11057
TTTCCTACCATTTACGTAGATTCACAAAAAGAAAATGAGAGGTGGAATGTTATTTCTAAA c.180
F P T I Y V D S Q K E N E R W N V I S K p.60
. . . . . . g.11117
TCACAGTTGAAGAACATTAAAAAGATGTGGCATAGGGAACAAATGAAGAGTGAATCCCGG c.240
S Q L K N I K K M W H R E Q M K S E S R p.80
. | 04 . . . . . g.11263
GAAAAGAAAGAG | GCAGAAGATAGTTTACGAAGAGAAAAGAACCTGGAAGAAGCAAAGAAG c.300
E K K E | A E D S L R R E K N L E E A K K p.100
. . . . | 05 . . g.13283
ATTACCATTAAAAATGATCCAAGTCTCCCAGAGCCAAAATGT | GTGAAGATTGGTGCGTTA c.360
I T I K N D P S L P E P K C | V K I G A L p.120
. . . . . . g.13343
GAAGGATATAGAGGCCAAAGAGTAAAGGTGTTTGGCTGGGTCCACAGGCTGCGCAGGCAA c.420
E G Y R G Q R V K V F G W V H R L R R Q p.140
| 06 . . . . . . g.15297
G | GAAAGAATTTAATGTTTCTGGTGTTGCGAGATGGTACAGGTTATCTTCAGTGTGTCTTG c.480
G | K N L M F L V L R D G T G Y L Q C V L p.160
. | 07 . . . . . g.17550
GCGGATGAGTTG | TGTCAGTGCTACAATGGAGTTCTCTTGTCCACGGAGAGCAGTGTTGCA c.540
A D E L | C Q C Y N G V L L S T E S S V A p.180
. . . | 08 . . g.19301
GTGTATGGAATGCTAAATCTTACCCCAAAGGGCAAGCAG | GCTCCAGGTGGCCATGAGCTG c.600
V Y G M L N L T P K G K Q | A P G G H E L p.200
. . . . . . g.19361
AGTTGTGACTTCTGGGAACTAATTGGGTTGGCCCCTGCTGGAGGAGCTGACAACCTGATC c.660
S C D F W E L I G L A P A G G A D N L I p.220
. . . . . . g.19421
AATGAGGAGTCTGACGTTGATGTCCAGCTCAACAACAGACACATGATGATCCGAGGAGAA c.720
N E E S D V D V Q L N N R H M M I R G E p.240
. . . . . . g.19481
AACATGTCCAAAATCCTAAAAGCACGATCCATGGTCACCAGGTGCTTTAGAGATCACTTC c.780
N M S K I L K A R S M V T R C F R D H F p.260
. . | 09 . . . . g.19651
TTTGATAGGGGGTACTATGAA | GTTACTCCTCCAACATTAGTGCAAACACAAGTAGAAGGT c.840
F D R G Y Y E | V T P P T L V Q T Q V E G p.280
. . . . . . g.19711
GGTGCCACACTCTTCAAGCTTGACTATTTTGGGGAAGAGGCATTTTTGACTCAATCCTCT c.900
G A T L F K L D Y F G E E A F L T Q S S p.300
. . . . . . g.19771
CAGTTGTACTTGGAGACCTGCCTCCCAGCCCTGGGAGATGTTTTTTGTATTGCTCAGTCA c.960
Q L Y L E T C L P A L G D V F C I A Q S p.320
. . . . | 10 . . g.20213
TACCGGGCAGAGCAGTCCAGAACACGAAGGCACCTGGCTGA | GTACACTCACGTGGAAGCT c.1020
Y R A E Q S R T R R H L A E | Y T H V E A p.340
. . . . . . g.20273
GAGTGTCCTTTCCTGACTTTTGACGACCTCCTGAACCGGTTGGAGGACTTGGTTTGTGAT c.1080
E C P F L T F D D L L N R L E D L V C D p.360
. . . . . | 11. g.20978
GTGGTAGATCGAATATTGAAGTCACCTGCAGGGAGCATAGTGCATGAGCTCAACCCG | AAC c.1140
V V D R I L K S P A G S I V H E L N P | N p.380
. . . . . . g.21038
TTTCAGCCCCCCAAACGGCCTTTCAAACGGATGAACTATTCAGATGCTATCGTTTGGCTA c.1200
F Q P P K R P F K R M N Y S D A I V W L p.400
. . . . . | 12 . g.24011
AAAGAACATGATGTAAAGAAAGAAGATGGAACTTTCTATGAATTTGGAGAA | GATATCCCA c.1260
K E H D V K K E D G T F Y E F G E | D I P p.420
. . . . . . g.24071
GAAGCTCCTGAGAGACTGATGACAGACACCATTAATGAACCAATCTTGCTGTGTCGATTT c.1320
E A P E R L M T D T I N E P I L L C R F p.440
. . . . . . g.24131
CCTGTGGAGATCAAGTCCTTCTACATGCAGCGATGTCCTGAGGATTCCCGTCTTACTGAA c.1380
P V E I K S F Y M Q R C P E D S R L T E p.460
| 13 . . . . . . g.24516
TCT | GTCGACGTGTTGATGCCCAATGTTGGTGAGATTGTGGGAGGCTCAATGCGTATCTTT c.1440
S | V D V L M P N V G E I V G G S M R I F p.480
. . . . . . g.24576
GATAGTGAAGAAATACTGGCAGGTTATAAAAGGGAAGGGATTGACCCCACTCCCTATTAC c.1500
D S E E I L A G Y K R E G I D P T P Y Y p.500
. | 14 . . . . . g.25207
TGGTATACGGATCAG | AGAAAATACGGTACATGTCCCCATGGAGGATATGGCTTGGGCTTG c.1560
W Y T D Q | R K Y G T C P H G G Y G L G L p.520
. . . . . . g.25267
GAACGATTCTTAACGTGGATTCTGAATAGGTATCACATCCGAGACGTGTGCTTATACCCT c.1620
E R F L T W I L N R Y H I R D V C L Y P p.540
. . g.25294
CGATTTGTCCAGCGTTGCACGCCATAA c.1647
R F V Q R C T P X p.548
. . . . . . g.25354
ccattttctccagaagcgtggaggaaagattatgaaaggaacaggctctttaaaaaagaa c.*60
. . . . . . g.25414
aacaaaaagccagaatcttcctttttttgtttcattggggtttctctttctgtttttctt c.*120
. . . . . . g.25474
tctactaccataaaaactatctcaaatcacctgaacatcaagtgatattaaggttgtcat c.*180
. . . . . . g.25534
cttaagaaaaaatatccatttttttcttaagttcgggaaacaaagttcggggaaaatacc c.*240
. . . . . . g.25594
tggcatgaaactgtagttagggatacatttcagcattttactcactttatccaagttatt c.*300
. . . . . . g.25654
cattttattcaagttatatgtatgtataattcaacaattttagattatggtgtaagatac c.*360
. . . . . . g.25714
tccagtaacttatctttctgtccttttaagtgtaccttgaattctttgatttattttatt c.*420
. . . . . . g.25774
gcatcaatgaattaaaacaaaaatcttgggggaagaaattggcaatatcgtataaaaatc c.*480
. . . . . . g.25834
tgctcatattagaacacagtataattcagcagtaaacactagaatcaaatgaatagcctt c.*540
. . . . . . g.25894
ttgtatcagttattaatcttttctaactctgcttagctgctaataatcctgaggcataga c.*600
. . . . . . g.25954
aattgaagaatttgtaaaaatagaattgccttaaaggatttgaagtaagaacataatttt c.*660
. . . . . . g.26014
ggggagagttttttagtgattcacagtatccctcttagcattaatttaaggtaaagaggc c.*720
. . . . . . g.26074
agattgattttccctctttcctggtaattcctaagtaattaagaataaataagttccaaa c.*780
. . . . . . g.26134
agaaattgtagctggaatcttaataacaattgtgagtggctgtttgagttgcccccacca c.*840
. . . . . . g.26194
tgtccttagatctaatctgtgctaccttattaactcacagcaggcttactgaatggcttc c.*900
. . . . . . g.26254
atttcagatttagttgatttctccaccaaatgcatgtcatgtattctcaataggctgtat c.*960
. . . g.26287
tcccagcagtcaataaatgaacacccgtaaaaa c.*993
(downstream sequence)
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