Canonical Allele Identifier: CA417064634

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780228-A-T
• MyVariant Identifiers: chr1:g.33245829A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780228A>T , CM000663.2:g.32780228A>T	GRCh38
NC_000001.10:g.33245829A>T , CM000663.1:g.33245829A>T	GRCh37
NC_000001.9:g.33018416A>T	NCBI36
NG_008408.1:g.42805T>A , LRG_273:g.42805T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1044T>A	ENSP00000502019.1:p.Ala348=
ENST00000373477.9:c.1191T>A MANE Select	ENSP00000362576.4:p.Ala397=
ENST00000674629.1:c.*739T>A	ENSP00000502470.1:n.*739T>A
ENST00000674654.1:c.*1151T>A	ENSP00000501729.1:n.*1151T>A
ENST00000675785.1:c.1044T>A	ENSP00000502019.1:p.Ala348=
ENST00000676297.1:c.*1365T>A	ENSP00000501596.1:n.*1365T>A
ENST00000373477.8:c.1191T>A	ENSP00000362576.4:p.Ala397=
ENST00000469100.5:n.1107T>A
ENST00000478828.1:n.658T>A
ENST00000487404.5:n.1501T>A
ENST00000490826.1:n.484T>A
NM_003680.3:c.1191T>A , LRG_273t1:c.1191T>A	NP_003671.1:p.Ala397=
XM_011542347.1:c.561T>A	XP_011540649.1:p.Ala187=
XM_011542348.1:c.561T>A	XP_011540650.1:p.Ala187=
XM_011542347.2:c.561T>A	XP_011540649.1:p.Ala187=
XM_017002651.2:c.561T>A	XP_016858140.1:p.Ala187=
NM_003680.4:c.1191T>A MANE Select	NP_003671.1:p.Ala397=