Canonical Allele Identifier: CA339683599

Gene: YARS1

Linked Data

• dbSNP Id: rs1264107148
• gnomAD v2: 1-33248106-T-C
• gnomAD v4: 1-32782505-T-C
• MyVariant Identifiers: chr1:g.33248106T>C (hg19) ; chr1:g.32782505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32782505T>C , CM000663.2:g.32782505T>C	GRCh38
NC_000001.10:g.33248106T>C , CM000663.1:g.33248106T>C	GRCh37
NC_000001.9:g.33020693T>C	NCBI36
NG_008408.1:g.40528A>G , LRG_273:g.40528A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.794A>G	ENSP00000502019.1:p.Glu265Gly
ENST00000373477.9:c.941A>G MANE Select	ENSP00000362576.4:p.Glu314Gly
ENST00000674629.1:c.*489A>G	ENSP00000502470.1:n.*489A>G
ENST00000674654.1:c.*901A>G	ENSP00000501729.1:n.*901A>G
ENST00000675785.1:c.794A>G	ENSP00000502019.1:p.Glu265Gly
ENST00000676297.1:c.*1115A>G	ENSP00000501596.1:n.*1115A>G
ENST00000373477.8:c.941A>G	ENSP00000362576.4:p.Glu314Gly
ENST00000478828.1:n.408A>G
ENST00000487404.5:n.1251A>G
ENST00000616261.1:c.941A>G	ENSP00000484192.1:p.Glu314Gly
NM_003680.3:c.941A>G , LRG_273t1:c.941A>G	NP_003671.1:p.Glu314Gly
XM_011542347.1:c.311A>G	XP_011540649.1:p.Glu104Gly
XM_011542348.1:c.311A>G	XP_011540650.1:p.Glu104Gly
XM_011542347.2:c.311A>G	XP_011540649.1:p.Glu104Gly
XM_017002651.2:c.311A>G	XP_016858140.1:p.Glu104Gly
NM_003680.4:c.941A>G MANE Select	NP_003671.1:p.Glu314Gly