Canonical Allele Identifier: CA339681739

Gene: YARS1

Linked Data

• ClinVar Variation Id: 2906846
• ClinVar RCV Id: RCV003615593
• gnomAD v4: 1-32780229-G-A
• MyVariant Identifiers: chr1:g.33245830G>A (hg19) ; chr1:g.32780229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780229G>A , CM000663.2:g.32780229G>A	GRCh38
NC_000001.10:g.33245830G>A , CM000663.1:g.33245830G>A	GRCh37
NC_000001.9:g.33018417G>A	NCBI36
NG_008408.1:g.42804C>T , LRG_273:g.42804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1043C>T	ENSP00000502019.1:p.Ala348Val
ENST00000373477.9:c.1190C>T MANE Select	ENSP00000362576.4:p.Ala397Val
ENST00000674629.1:c.*738C>T	ENSP00000502470.1:n.*738C>T
ENST00000674654.1:c.*1150C>T	ENSP00000501729.1:n.*1150C>T
ENST00000675785.1:c.1043C>T	ENSP00000502019.1:p.Ala348Val
ENST00000676297.1:c.*1364C>T	ENSP00000501596.1:n.*1364C>T
ENST00000373477.8:c.1190C>T	ENSP00000362576.4:p.Ala397Val
ENST00000469100.5:n.1106C>T
ENST00000478828.1:n.657C>T
ENST00000487404.5:n.1500C>T
ENST00000490826.1:n.483C>T
NM_003680.3:c.1190C>T , LRG_273t1:c.1190C>T	NP_003671.1:p.Ala397Val
XM_011542347.1:c.560C>T	XP_011540649.1:p.Ala187Val
XM_011542348.1:c.560C>T	XP_011540650.1:p.Ala187Val
XM_011542347.2:c.560C>T	XP_011540649.1:p.Ala187Val
XM_017002651.2:c.560C>T	XP_016858140.1:p.Ala187Val
NM_003680.4:c.1190C>T MANE Select	NP_003671.1:p.Ala397Val