Canonical Allele Identifier: CA417064384

Gene: YARS1

Linked Data

• dbSNP Id: rs1308275514
• gnomAD v2: 1-33245790-C-T
• gnomAD v4: 1-32780189-C-T
• MyVariant Identifiers: chr1:g.33245790C>T (hg19) ; chr1:g.32780189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780189C>T , CM000663.2:g.32780189C>T	GRCh38
NC_000001.10:g.33245790C>T , CM000663.1:g.33245790C>T	GRCh37
NC_000001.9:g.33018377C>T	NCBI36
NG_008408.1:g.42844G>A , LRG_273:g.42844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1083G>A	ENSP00000502019.1:p.Val361=
ENST00000373477.9:c.1230G>A MANE Select	ENSP00000362576.4:p.Val410=
ENST00000674629.1:c.*778G>A	ENSP00000502470.1:n.*778G>A
ENST00000674654.1:c.*1190G>A	ENSP00000501729.1:n.*1190G>A
ENST00000675785.1:c.1083G>A	ENSP00000502019.1:p.Val361=
ENST00000676297.1:c.*1404G>A	ENSP00000501596.1:n.*1404G>A
ENST00000373477.8:c.1230G>A	ENSP00000362576.4:p.Val410=
ENST00000469100.5:n.1146G>A
ENST00000478828.1:n.697G>A
ENST00000487404.5:n.1540G>A
ENST00000490826.1:n.523G>A
NM_003680.3:c.1230G>A , LRG_273t1:c.1230G>A	NP_003671.1:p.Val410=
XM_011542347.1:c.600G>A	XP_011540649.1:p.Val200=
XM_011542348.1:c.600G>A	XP_011540650.1:p.Val200=
XM_011542347.2:c.600G>A	XP_011540649.1:p.Val200=
XM_017002651.2:c.600G>A	XP_016858140.1:p.Val200=
NM_003680.4:c.1230G>A MANE Select	NP_003671.1:p.Val410=