Canonical Allele Identifier: CA417064611
Gene: YARS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.33245826T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780225T>C , CM000663.2:g.32780225T>C GRCh38
NC_000001.10:g.33245826T>C , CM000663.1:g.33245826T>C GRCh37
NC_000001.9:g.33018413T>C NCBI36
NG_008408.1:g.42808A>G , LRG_273:g.42808A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1047A>G ENSP00000502019.1:p.Glu349=
ENST00000373477.9:c.1194A>G MANE Select ENSP00000362576.4:p.Glu398=
ENST00000674629.1:c.*742A>G ENSP00000502470.1:n.*742A>G
ENST00000674654.1:c.*1154A>G ENSP00000501729.1:n.*1154A>G
ENST00000675785.1:c.1047A>G ENSP00000502019.1:p.Glu349=
ENST00000676297.1:c.*1368A>G ENSP00000501596.1:n.*1368A>G
ENST00000373477.8:c.1194A>G ENSP00000362576.4:p.Glu398=
ENST00000469100.5:n.1110A>G
ENST00000478828.1:n.661A>G
ENST00000487404.5:n.1504A>G
ENST00000490826.1:n.487A>G
NM_003680.3:c.1194A>G , LRG_273t1:c.1194A>G NP_003671.1:p.Glu398=
XM_011542347.1:c.564A>G XP_011540649.1:p.Glu188=
XM_011542348.1:c.564A>G XP_011540650.1:p.Glu188=
XM_011542347.2:c.564A>G XP_011540649.1:p.Glu188=
XM_017002651.2:c.564A>G XP_016858140.1:p.Glu188=
NM_003680.4:c.1194A>G MANE Select NP_003671.1:p.Glu398=