Canonical Allele Identifier: CA339683607

Gene: YARS1

Linked Data

• dbSNP Id: rs1310194398
• gnomAD v3: 1-32782508-A-G
• gnomAD v4: 1-32782508-A-G
• MyVariant Identifiers: chr1:g.33248109A>G (hg19) ; chr1:g.32782508A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32782508A>G , CM000663.2:g.32782508A>G	GRCh38
NC_000001.10:g.33248109A>G , CM000663.1:g.33248109A>G	GRCh37
NC_000001.9:g.33020696A>G	NCBI36
NG_008408.1:g.40525T>C , LRG_273:g.40525T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.791T>C	ENSP00000502019.1:p.Val264Ala
ENST00000373477.9:c.938T>C MANE Select	ENSP00000362576.4:p.Val313Ala
ENST00000674629.1:c.*486T>C	ENSP00000502470.1:n.*486T>C
ENST00000674654.1:c.*898T>C	ENSP00000501729.1:n.*898T>C
ENST00000675785.1:c.791T>C	ENSP00000502019.1:p.Val264Ala
ENST00000676297.1:c.*1112T>C	ENSP00000501596.1:n.*1112T>C
ENST00000373477.8:c.938T>C	ENSP00000362576.4:p.Val313Ala
ENST00000478828.1:n.405T>C
ENST00000487404.5:n.1248T>C
ENST00000616261.1:c.938T>C	ENSP00000484192.1:p.Val313Ala
NM_003680.3:c.938T>C , LRG_273t1:c.938T>C	NP_003671.1:p.Val313Ala
XM_011542347.1:c.308T>C	XP_011540649.1:p.Val103Ala
XM_011542348.1:c.308T>C	XP_011540650.1:p.Val103Ala
XM_011542347.2:c.308T>C	XP_011540649.1:p.Val103Ala
XM_017002651.2:c.308T>C	XP_016858140.1:p.Val103Ala
NM_003680.4:c.938T>C MANE Select	NP_003671.1:p.Val313Ala