Canonical Allele Identifier: CA339681915

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245871A>T (hg19) ; chr1:g.32780270A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780270A>T , CM000663.2:g.32780270A>T	GRCh38
NC_000001.10:g.33245871A>T , CM000663.1:g.33245871A>T	GRCh37
NC_000001.9:g.33018458A>T	NCBI36
NG_008408.1:g.42763T>A , LRG_273:g.42763T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1002T>A	ENSP00000502019.1:p.Asp334Glu
ENST00000373477.9:c.1149T>A MANE Select	ENSP00000362576.4:p.Asp383Glu
ENST00000674629.1:c.*697T>A	ENSP00000502470.1:n.*697T>A
ENST00000674654.1:c.*1109T>A	ENSP00000501729.1:n.*1109T>A
ENST00000675785.1:c.1002T>A	ENSP00000502019.1:p.Asp334Glu
ENST00000676297.1:c.*1323T>A	ENSP00000501596.1:n.*1323T>A
ENST00000373477.8:c.1149T>A	ENSP00000362576.4:p.Asp383Glu
ENST00000469100.5:n.1065T>A
ENST00000478828.1:n.616T>A
ENST00000487404.5:n.1459T>A
ENST00000490826.1:n.442T>A
ENST00000616261.1:c.1148T>A	ENSP00000484192.1:p.Met383Lys
NM_003680.3:c.1149T>A , LRG_273t1:c.1149T>A	NP_003671.1:p.Asp383Glu
XM_011542347.1:c.519T>A	XP_011540649.1:p.Asp173Glu
XM_011542348.1:c.519T>A	XP_011540650.1:p.Asp173Glu
XM_011542347.2:c.519T>A	XP_011540649.1:p.Asp173Glu
XM_017002651.2:c.519T>A	XP_016858140.1:p.Asp173Glu
NM_003680.4:c.1149T>A MANE Select	NP_003671.1:p.Asp383Glu