Canonical Allele Identifier: CA339681884

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780264-G-C
• MyVariant Identifiers: chr1:g.33245865G>C (hg19) ; chr1:g.32780264G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780264G>C , CM000663.2:g.32780264G>C	GRCh38
NC_000001.10:g.33245865G>C , CM000663.1:g.33245865G>C	GRCh37
NC_000001.9:g.33018452G>C	NCBI36
NG_008408.1:g.42769C>G , LRG_273:g.42769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1008C>G	ENSP00000502019.1:p.Asp336Glu
ENST00000373477.9:c.1155C>G MANE Select	ENSP00000362576.4:p.Asp385Glu
ENST00000674629.1:c.*703C>G	ENSP00000502470.1:n.*703C>G
ENST00000674654.1:c.*1115C>G	ENSP00000501729.1:n.*1115C>G
ENST00000675785.1:c.1008C>G	ENSP00000502019.1:p.Asp336Glu
ENST00000676297.1:c.*1329C>G	ENSP00000501596.1:n.*1329C>G
ENST00000373477.8:c.1155C>G	ENSP00000362576.4:p.Asp385Glu
ENST00000469100.5:n.1071C>G
ENST00000478828.1:n.622C>G
ENST00000487404.5:n.1465C>G
ENST00000490826.1:n.448C>G
ENST00000616261.1:c.1154C>G	ENSP00000484192.1:p.Thr385Arg
NM_003680.3:c.1155C>G , LRG_273t1:c.1155C>G	NP_003671.1:p.Asp385Glu
XM_011542347.1:c.525C>G	XP_011540649.1:p.Asp175Glu
XM_011542348.1:c.525C>G	XP_011540650.1:p.Asp175Glu
XM_011542347.2:c.525C>G	XP_011540649.1:p.Asp175Glu
XM_017002651.2:c.525C>G	XP_016858140.1:p.Asp175Glu
NM_003680.4:c.1155C>G MANE Select	NP_003671.1:p.Asp385Glu