Canonical Allele Identifier: CA744898

Gene: YARS1

Linked Data

• ClinVar Variation Id: 843281
• ClinVar RCV Id: RCV001045871 ; RCV002553131
• dbSNP Id: rs770972459
• ExAC: 1:33245041 T / C
• gnomAD v2: 1-33245041-T-C
• gnomAD v4: 1-32779440-T-C
• MyVariant Identifiers: chr1:g.33245041T>C (hg19) ; chr1:g.32779440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32779440T>C , CM000663.2:g.32779440T>C	GRCh38
NC_000001.10:g.33245041T>C , CM000663.1:g.33245041T>C	GRCh37
NC_000001.9:g.33017628T>C	NCBI36
NG_008408.1:g.43593A>G , LRG_273:g.43593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1271A>G	ENSP00000502019.1:p.Glu424Gly
ENST00000373477.9:c.1418A>G MANE Select	ENSP00000362576.4:p.Glu473Gly
ENST00000674629.1:c.*966A>G	ENSP00000502470.1:n.*966A>G
ENST00000674654.1:c.*1378A>G	ENSP00000501729.1:n.*1378A>G
ENST00000675785.1:c.1271A>G	ENSP00000502019.1:p.Glu424Gly
ENST00000676297.1:c.*1592A>G	ENSP00000501596.1:n.*1592A>G
ENST00000373477.8:c.1418A>G	ENSP00000362576.4:p.Glu473Gly
ENST00000469100.5:n.1334A>G
ENST00000478828.1:n.885A>G
ENST00000487404.5:n.1728A>G
ENST00000490826.1:n.1272A>G
NM_003680.3:c.1418A>G , LRG_273t1:c.1418A>G	NP_003671.1:p.Glu473Gly
XM_011542347.1:c.788A>G	XP_011540649.1:p.Glu263Gly
XM_011542348.1:c.788A>G	XP_011540650.1:p.Glu263Gly
XM_011542347.2:c.788A>G	XP_011540649.1:p.Glu263Gly
XM_017002651.2:c.788A>G	XP_016858140.1:p.Glu263Gly
NM_003680.4:c.1418A>G MANE Select	NP_003671.1:p.Glu473Gly