Canonical Allele Identifier: CA339681694

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780217-G-A
• MyVariant Identifiers: chr1:g.33245818G>A (hg19) ; chr1:g.32780217G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780217G>A , CM000663.2:g.32780217G>A	GRCh38
NC_000001.10:g.33245818G>A , CM000663.1:g.33245818G>A	GRCh37
NC_000001.9:g.33018405G>A	NCBI36
NG_008408.1:g.42816C>T , LRG_273:g.42816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1055C>T	ENSP00000502019.1:p.Thr352Ile
ENST00000373477.9:c.1202C>T MANE Select	ENSP00000362576.4:p.Thr401Ile
ENST00000674629.1:c.*750C>T	ENSP00000502470.1:n.*750C>T
ENST00000674654.1:c.*1162C>T	ENSP00000501729.1:n.*1162C>T
ENST00000675785.1:c.1055C>T	ENSP00000502019.1:p.Thr352Ile
ENST00000676297.1:c.*1376C>T	ENSP00000501596.1:n.*1376C>T
ENST00000373477.8:c.1202C>T	ENSP00000362576.4:p.Thr401Ile
ENST00000469100.5:n.1118C>T
ENST00000478828.1:n.669C>T
ENST00000487404.5:n.1512C>T
ENST00000490826.1:n.495C>T
NM_003680.3:c.1202C>T , LRG_273t1:c.1202C>T	NP_003671.1:p.Thr401Ile
XM_011542347.1:c.572C>T	XP_011540649.1:p.Thr191Ile
XM_011542348.1:c.572C>T	XP_011540650.1:p.Thr191Ile
XM_011542347.2:c.572C>T	XP_011540649.1:p.Thr191Ile
XM_017002651.2:c.572C>T	XP_016858140.1:p.Thr191Ile
NM_003680.4:c.1202C>T MANE Select	NP_003671.1:p.Thr401Ile