Canonical Allele Identifier: CA339681740

Gene: YARS1

Linked Data

• ClinVar Variation Id: 1679339
• ClinVar RCV Id: RCV002226936
• dbSNP Id: rs2148599973
• MyVariant Identifiers: chr1:g.33245830G>C (hg19) ; chr1:g.32780229G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1043C>G	ENSP00000502019.1:p.Ala348Gly
ENST00000373477.9:c.1190C>G MANE Select	ENSP00000362576.4:p.Ala397Gly
ENST00000674629.1:c.*738C>G	ENSP00000502470.1:n.*738C>G
ENST00000674654.1:c.*1150C>G	ENSP00000501729.1:n.*1150C>G
ENST00000675785.1:c.1043C>G	ENSP00000502019.1:p.Ala348Gly
ENST00000676297.1:c.*1364C>G	ENSP00000501596.1:n.*1364C>G
ENST00000373477.8:c.1190C>G	ENSP00000362576.4:p.Ala397Gly
ENST00000469100.5:n.1106C>G
ENST00000478828.1:n.657C>G
ENST00000487404.5:n.1500C>G
ENST00000490826.1:n.483C>G
NM_003680.3:c.1190C>G , LRG_273t1:c.1190C>G	NP_003671.1:p.Ala397Gly
XM_011542347.1:c.560C>G	XP_011540649.1:p.Ala187Gly
XM_011542348.1:c.560C>G	XP_011540650.1:p.Ala187Gly
XM_011542347.2:c.560C>G	XP_011540649.1:p.Ala187Gly
XM_017002651.2:c.560C>G	XP_016858140.1:p.Ala187Gly
NM_003680.4:c.1190C>G MANE Select	NP_003671.1:p.Ala397Gly