Canonical Allele Identifier: CA339681537
Gene: YARS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780175A>C , CM000663.2:g.32780175A>C GRCh38
NC_000001.10:g.33245776A>C , CM000663.1:g.33245776A>C GRCh37
NC_000001.9:g.33018363A>C NCBI36
NG_008408.1:g.42858T>G , LRG_273:g.42858T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1097T>G ENSP00000502019.1:p.Leu366Arg
ENST00000373477.9:c.1244T>G MANE Select ENSP00000362576.4:p.Leu415Arg
ENST00000674629.1:c.*792T>G ENSP00000502470.1:n.*792T>G
ENST00000674654.1:c.*1204T>G ENSP00000501729.1:n.*1204T>G
ENST00000675785.1:c.1097T>G ENSP00000502019.1:p.Leu366Arg
ENST00000676297.1:c.*1418T>G ENSP00000501596.1:n.*1418T>G
ENST00000373477.8:c.1244T>G ENSP00000362576.4:p.Leu415Arg
ENST00000469100.5:n.1160T>G
ENST00000478828.1:n.711T>G
ENST00000487404.5:n.1554T>G
ENST00000490826.1:n.537T>G
NM_003680.3:c.1244T>G , LRG_273t1:c.1244T>G NP_003671.1:p.Leu415Arg
XM_011542347.1:c.614T>G XP_011540649.1:p.Leu205Arg
XM_011542348.1:c.614T>G XP_011540650.1:p.Leu205Arg
XM_011542347.2:c.614T>G XP_011540649.1:p.Leu205Arg
XM_017002651.2:c.614T>G XP_016858140.1:p.Leu205Arg
NM_003680.4:c.1244T>G MANE Select NP_003671.1:p.Leu415Arg