Canonical Allele Identifier: CA339681564

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780182-C-T
• MyVariant Identifiers: chr1:g.33245783C>T (hg19) ; chr1:g.32780182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780182C>T , CM000663.2:g.32780182C>T	GRCh38
NC_000001.10:g.33245783C>T , CM000663.1:g.33245783C>T	GRCh37
NC_000001.9:g.33018370C>T	NCBI36
NG_008408.1:g.42851G>A , LRG_273:g.42851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1090G>A	ENSP00000502019.1:p.Glu364Lys
ENST00000373477.9:c.1237G>A MANE Select	ENSP00000362576.4:p.Glu413Lys
ENST00000674629.1:c.*785G>A	ENSP00000502470.1:n.*785G>A
ENST00000674654.1:c.*1197G>A	ENSP00000501729.1:n.*1197G>A
ENST00000675785.1:c.1090G>A	ENSP00000502019.1:p.Glu364Lys
ENST00000676297.1:c.*1411G>A	ENSP00000501596.1:n.*1411G>A
ENST00000373477.8:c.1237G>A	ENSP00000362576.4:p.Glu413Lys
ENST00000469100.5:n.1153G>A
ENST00000478828.1:n.704G>A
ENST00000487404.5:n.1547G>A
ENST00000490826.1:n.530G>A
NM_003680.3:c.1237G>A , LRG_273t1:c.1237G>A	NP_003671.1:p.Glu413Lys
XM_011542347.1:c.607G>A	XP_011540649.1:p.Glu203Lys
XM_011542348.1:c.607G>A	XP_011540650.1:p.Glu203Lys
XM_011542347.2:c.607G>A	XP_011540649.1:p.Glu203Lys
XM_017002651.2:c.607G>A	XP_016858140.1:p.Glu203Lys
NM_003680.4:c.1237G>A MANE Select	NP_003671.1:p.Glu413Lys