Canonical Allele Identifier: CA417064547

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780213-C-T
• MyVariant Identifiers: chr1:g.33245814C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780213C>T , CM000663.2:g.32780213C>T	GRCh38
NC_000001.10:g.33245814C>T , CM000663.1:g.33245814C>T	GRCh37
NC_000001.9:g.33018401C>T	NCBI36
NG_008408.1:g.42820G>A , LRG_273:g.42820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1059G>A	ENSP00000502019.1:p.Val353=
ENST00000373477.9:c.1206G>A MANE Select	ENSP00000362576.4:p.Val402=
ENST00000674629.1:c.*754G>A	ENSP00000502470.1:n.*754G>A
ENST00000674654.1:c.*1166G>A	ENSP00000501729.1:n.*1166G>A
ENST00000675785.1:c.1059G>A	ENSP00000502019.1:p.Val353=
ENST00000676297.1:c.*1380G>A	ENSP00000501596.1:n.*1380G>A
ENST00000373477.8:c.1206G>A	ENSP00000362576.4:p.Val402=
ENST00000469100.5:n.1122G>A
ENST00000478828.1:n.673G>A
ENST00000487404.5:n.1516G>A
ENST00000490826.1:n.499G>A
NM_003680.3:c.1206G>A , LRG_273t1:c.1206G>A	NP_003671.1:p.Val402=
XM_011542347.1:c.576G>A	XP_011540649.1:p.Val192=
XM_011542348.1:c.576G>A	XP_011540650.1:p.Val192=
XM_011542347.2:c.576G>A	XP_011540649.1:p.Val192=
XM_017002651.2:c.576G>A	XP_016858140.1:p.Val192=
NM_003680.4:c.1206G>A MANE Select	NP_003671.1:p.Val402=