(used for variant description)
(last modified December 2, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003680.3 in the YARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008408.1, covering YARS transcript NM_003680.3.
(upstream sequence)
g.5008
gcaacagc c.-781
. . . . . . g.5068
ctcccgccgagccggccgggacagaggcggcccccacccccactgggcaggggactgcag c.-721
. . . . . . g.5128
acggcgctccccgactctcaagacgaccagggagcttcccttttcctcagcggggtgagg c.-661
. . . . . . g.5188
ggcatctgtcgcccgccgacttggaggtggaggggcagggacattccctcgccatcacct c.-601
. . . . . . g.5248
caggagctagaacgcgcccttctcgcagcagggcgtgggcctcccaatccctccaagggg c.-541
. . . . . . g.5308
cggacggcgtgcgcaaccccctggagaagcaacaggcgcccccatccccctccaagccgg c.-481
. . . . . . g.5368
gtaacgccgaccccctcgtccctcccgctcttcacctccggaagccgggccaaagcctgg c.-421
. . . . . . g.5428
gcgaacgactgcgcctcactccgccccctgcgccattttatcgccccctccccgacctcc c.-361
. . . . . . g.5488
cctaccccgagtcagccgggccaacaccagggggagggcaaaccagcagtgattggcagg c.-301
. . . . . . g.5548
aaaccgtcccgcctctaggagggttgtgccccgctcaggcgcctcagccccgccctccgc c.-241
. . . . . . g.5608
accgcccaccgtgcccactggctccaccttttcccgtctcatcgacctgctcgactctct c.-181
. . . . . . g.5668
gctgctcctcactttttccggccgctgccggaggggtccaggccgagtaagcggagcgcc c.-121
. . . . . . g.5728
gagcccagctgatgcaacctggctggactcgcgtgacagttcccggcacgcggcggcgac c.-61
. . . . . . g.5788
ggtgacccaggaaggggctctggtgccgggctgagcgggggaagcaggggtagcggagcc c.-1
. . . . . | 02. g.11978
ATGGGGGACGCTCCCAGCCCTGAAGAGAAACTGCACCTTATCACCCGGAACCTGCAG | GAG c.60
M G D A P S P E E K L H L I T R N L Q | E p.20
. . . . . . g.12038
GTTCTGGGGGAAGAGAAGCTGAAGGAGATACTGAAGGAGCGGGAACTTAAAATTTACTGG c.120
V L G E E K L K E I L K E R E L K I Y W p.40
. . . . . . g.12098
GGAACGGCAACCACGGGCAAACCACATGTGGCTTACTTTGTGCCCATGTCAAAGATTGCA c.180
G T A T T G K P H V A Y F V P M S K I A p.60
. . | 03 . . . . g.12302
GACTTCTTAAAGGCAGGGTGTGAG | GTAACAATTCTGTTTGCGGACCTCCACGCATACCTG c.240
D F L K A G C E | V T I L F A D L H A Y L p.80
. . . . . . g.12362
GATAACATGAAAGCCCCATGGGAACTTCTAGAACTCCGAGTCAGTTACTATGAGAATGTG c.300
D N M K A P W E L L E L R V S Y Y E N V p.100
. . . . . . g.12422
ATCAAAGCAATGCTGGAGAGCATTGGTGTGCCCTTGGAGAAGCTCAAGTTCATCAAAGGC c.360
I K A M L E S I G V P L E K L K F I K G p.120
. . | 04 . . . . g.16461
ACTGATTACCAGCTCAGCAA | AGAGTACACACTAGATGTGTACAGACTCTCCTCCGTGGTC c.420
T D Y Q L S K | E Y T L D V Y R L S S V V p.140
. . . . . . g.16521
ACACAGCACGATTCCAAGAAGGCTGGAGCTGAGGTGGTAAAGCAGGTGGAGCACCCTTTG c.480
T Q H D S K K A G A E V V K Q V E H P L p.160
. . . | 05 . . . g.25219
CTGAGTGGCCTCTTATACCCCGGACTGCAG | GCTTTGGATGAAGAGTATTTAAAAGTAGAT c.540
L S G L L Y P G L Q | A L D E E Y L K V D p.180
. . . . . | 06 . g.31787
GCCCAATTTGGAGGCATTGATCAGAGAAAGATTTTCACCTTTGCAGAGAAG | TACCTCCCT c.600
A Q F G G I D Q R K I F T F A E K | Y L P p.200
. . . . . . g.31847
GCACTTGGCTATTCAAAACGGGTCCATCTGATGAATCCTATGGTTCCAGGATTAACAGGC c.660
A L G Y S K R V H L M N P M V P G L T G p.220
. . | 07 . . . . g.35993
AGCAAAATGAGCTCTTCAGAAGAG | GAGTCCAAGATTGATCTCCTTGATCGGAAGGAGGAT c.720
S K M S S S E E | E S K I D L L D R K E D p.240
. . . . . . g.36053
GTGAAGAAAAAACTGAAGAAGGCCTTCTGTGAGCCAGGAAATGTGGAGAACAATGGGGTT c.780
V K K K L K K A F C E P G N V E N N G V p.260
. . . . | 08 . . g.36605
CTGTCCTTCATCAAGCATGTCCTTTTTCCCCTTAAGTCCG | AGTTTGTGATCCTACGAGAT c.840
L S F I K H V L F P L K S E | F V I L R D p.280
. . . . . . g.36665
GAGAAATGGGGTGGAAACAAAACCTACACAGCTTACGTGGACCTGGAAAAGGACTTTGCT c.900
E K W G G N K T Y T A Y V D L E K D F A p.300
| 09 . . . . . . g.40547
GCTGAG | GTTGTACATCCTGGAGACCTGAAGAATTCTGTTGAAGTCGCACTGAACAAGTTG c.960
A E | V V H P G D L K N S V E V A L N K L p.320
. . . . . . g.40607
CTGGATCCAATCCGGGAAAAGTTTAATACCCCTGCCCTGAAAAAACTGGCCAGCGCTGCC c.1020
L D P I R E K F N T P A L K K L A S A A p.340
. . | 10 . . . . g.41925
TACCCAGATCCCTCAAAGCAGA | AGCCAATGGCCAAAGGCCCTGCCAAGAATTCAGAACCA c.1080
Y P D P S K Q K | P M A K G P A K N S E P p.360
. . . . . . g.41985
GAGGAGGTCATCCCATCCCGGCTGGATATCCGTGTGGGGAAAATCATCACTGTGGAGAAG c.1140
E E V I P S R L D I R V G K I I T V E K p.380
| 11 . . . . . . g.42814
| CACCCAGATGCAGACAGCCTGTATGTAGAGAAGATTGACGTGGGGGAAGCTGAACCACGG c.1200
| H P D A D S L Y V E K I D V G E A E P R p.400
. . . . . . g.42874
ACTGTGGTGAGCGGCCTGGTACAGTTCGTGCCCAAGGAGGAACTGCAGGACAGGCTGGTA c.1260
T V V S G L V Q F V P K E E L Q D R L V p.420
. . . . . . g.42934
GTGGTGCTGTGCAACCTGAAACCCCAGAAGATGAGAGGAGTCGAGTCCCAAGGCATGCTT c.1320
V V L C N L K P Q K M R G V E S Q G M L p.440
. | 12 . . . . . g.43555
CTGTGTGCTTCTAT | AGAAGGGATAAACCGCCAGGTTGAACCTCTGGACCCTCCGGCAGGC c.1380
L C A S I | E G I N R Q V E P L D P P A G p.460
. . . . . . g.43615
TCTGCTCCTGGTGAGCACGTGTTTGTGAAGGGCTATGAAAAGGGCCAACCAGATGAGGAG c.1440
S A P G E H V F V K G Y E K G Q P D E E p.480
. . . | 13 . . . g.46965
CTCAAGCCCAAGAAGAAAGTCTTCGAGAAGTTGCAG | GCTGACTTCAAAATTTCTGAGGAG c.1500
L K P K K K V F E K L Q | A D F K I S E E p.500
. . . . . . g.47025
TGCATCGCACAGTGGAAGCAAACCAACTTCATGACCAAGCTGGGCTCCATTTCCTGTAAA c.1560
C I A Q W K Q T N F M T K L G S I S C K p.520
. . g.47052
TCGCTGAAAGGGGGGAACATTAGCTAG c.1587
S L K G G N I S X p.528
. . . . . . g.47112
ccagcccagcatcttccccccttcttccaccactgagtcatctgctgtctcttcagtctg c.*60
. . . . . . g.47172
ctccatccatcacccatttacccatctctcaggacacggaagcagcgggtttggactctt c.*120
. . . . . . g.47232
tattcggtgcagaactcggcaaggggcagcttaccctccccagaacccaggatcatcctg c.*180
. . . . . . g.47292
tctggctgcagtgagagaccaacccctaacaagggctgggccacagcagggagtccagcc c.*240
. . . . . . g.47352
ctaccttcttcccttggcagctggagaaatctggtttcaatataactcatttaaaaattt c.*300
. . . . . . g.47412
atgccacagtccttataattggaaaaatactggtgcccaggttttcttggagttatccaa c.*360
. . . . . . g.47472
gcagctgcgcccctagctgggatctggtacctggactaggctaattacagcttctcccca c.*420
. . . . . . g.47532
acaggaaactgtgggatttgaaaaggaaagggaagggaaaacagagaacctagtggtcta c.*480
. . . . . . g.47592
ccaagtggttggcaactttcccaatgtctgcttactctgaggcttggcactgggggccag c.*540
. . . . . . g.47652
ggcctgccccagggctcctggaatttcccttgatccagctaggctgggacactccctaaa c.*600
. . . . . . g.47712
tcagctgcgtgttgttagcatcaggcagaatgaatggcagagagtgattctgtcttcata c.*660
. . . . . . g.47772
gagggtggggtacttctccataaggcatctcagtcaaatccccatcactgtcataaattc c.*720
. . g.47794
aaataaaatgtctgaacaaggg c.*742
(downstream sequence)
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