Canonical Allele Identifier: CA339683600

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33248106T>G (hg19) ; chr1:g.32782505T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.794A>C	ENSP00000502019.1:p.Glu265Ala
ENST00000373477.9:c.941A>C MANE Select	ENSP00000362576.4:p.Glu314Ala
ENST00000674629.1:c.*489A>C	ENSP00000502470.1:n.*489A>C
ENST00000674654.1:c.*901A>C	ENSP00000501729.1:n.*901A>C
ENST00000675785.1:c.794A>C	ENSP00000502019.1:p.Glu265Ala
ENST00000676297.1:c.*1115A>C	ENSP00000501596.1:n.*1115A>C
ENST00000373477.8:c.941A>C	ENSP00000362576.4:p.Glu314Ala
ENST00000478828.1:n.408A>C
ENST00000487404.5:n.1251A>C
ENST00000616261.1:c.941A>C	ENSP00000484192.1:p.Glu314Ala
NM_003680.3:c.941A>C , LRG_273t1:c.941A>C	NP_003671.1:p.Glu314Ala
XM_011542347.1:c.311A>C	XP_011540649.1:p.Glu104Ala
XM_011542348.1:c.311A>C	XP_011540650.1:p.Glu104Ala
XM_011542347.2:c.311A>C	XP_011540649.1:p.Glu104Ala
XM_017002651.2:c.311A>C	XP_016858140.1:p.Glu104Ala
NM_003680.4:c.941A>C MANE Select	NP_003671.1:p.Glu314Ala