Canonical Allele Identifier: CA118054

Gene: YARS1

Linked Data

• ClinVar Variation Id: 6189
• ClinVar RCV Id: RCV000006566 ; RCV000789621 ; RCV003328123
• dbSNP Id: rs121908834
• MyVariant Identifiers: chr1:g.33263369C>T (hg19) ; chr1:g.32797768C>T (hg38)
• PubMed: PMID:14606043 ; PMID:16429158

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32797768C>T , CM000663.2:g.32797768C>T	GRCh38
NC_000001.10:g.33263369C>T , CM000663.1:g.33263369C>T	GRCh37
NC_000001.9:g.33035956C>T	NCBI36
NG_008408.1:g.25265G>A , LRG_273:g.25265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.439G>A	ENSP00000502019.1:p.Glu147Lys
ENST00000373477.9:c.586G>A MANE Select	ENSP00000362576.4:p.Glu196Lys
ENST00000481895.6:c.586G>A	ENSP00000502016.1:p.Glu196Lys
ENST00000616261.2:c.586G>A	ENSP00000484192.2:p.Glu196Lys
ENST00000674629.1:c.*134G>A	ENSP00000502470.1:n.*134G>A
ENST00000674654.1:c.*54G>A	ENSP00000501729.1:n.*54G>A
ENST00000675785.1:c.439G>A	ENSP00000502019.1:p.Glu147Lys
ENST00000676297.1:c.*268G>A	ENSP00000501596.1:n.*268G>A
ENST00000373477.8:c.586G>A	ENSP00000362576.4:p.Glu196Lys
ENST00000466052.1:n.447G>A
ENST00000470377.1:n.175G>A
ENST00000481895.5:n.659G>A
ENST00000616261.1:c.586G>A	ENSP00000484192.1:p.Glu196Lys
NM_003680.3:c.586G>A , LRG_273t1:c.586G>A	NP_003671.1:p.Glu196Lys
XM_011542347.1:c.-45G>A	XP_011540649.1:n.-45G>A
XM_011542348.1:c.-92G>A	XP_011540650.1:n.-92G>A
XM_011542347.2:c.-45G>A	XP_011540649.1:n.-45G>A
XM_017002651.2:c.-92G>A	XP_016858140.1:n.-92G>A
NM_003680.4:c.586G>A MANE Select	NP_003671.1:p.Glu196Lys