Canonical Allele Identifier: CA339681663

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245812A>C (hg19) ; chr1:g.32780211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780211A>C , CM000663.2:g.32780211A>C	GRCh38
NC_000001.10:g.33245812A>C , CM000663.1:g.33245812A>C	GRCh37
NC_000001.9:g.33018399A>C	NCBI36
NG_008408.1:g.42822T>G , LRG_273:g.42822T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1061T>G	ENSP00000502019.1:p.Val354Gly
ENST00000373477.9:c.1208T>G MANE Select	ENSP00000362576.4:p.Val403Gly
ENST00000674629.1:c.*756T>G	ENSP00000502470.1:n.*756T>G
ENST00000674654.1:c.*1168T>G	ENSP00000501729.1:n.*1168T>G
ENST00000675785.1:c.1061T>G	ENSP00000502019.1:p.Val354Gly
ENST00000676297.1:c.*1382T>G	ENSP00000501596.1:n.*1382T>G
ENST00000373477.8:c.1208T>G	ENSP00000362576.4:p.Val403Gly
ENST00000469100.5:n.1124T>G
ENST00000478828.1:n.675T>G
ENST00000487404.5:n.1518T>G
ENST00000490826.1:n.501T>G
NM_003680.3:c.1208T>G , LRG_273t1:c.1208T>G	NP_003671.1:p.Val403Gly
XM_011542347.1:c.578T>G	XP_011540649.1:p.Val193Gly
XM_011542348.1:c.578T>G	XP_011540650.1:p.Val193Gly
XM_011542347.2:c.578T>G	XP_011540649.1:p.Val193Gly
XM_017002651.2:c.578T>G	XP_016858140.1:p.Val193Gly
NM_003680.4:c.1208T>G MANE Select	NP_003671.1:p.Val403Gly