Canonical Allele Identifier: CA339681919

Gene: YARS1

Linked Data

• dbSNP Id: rs1317777895
• gnomAD v2: 1-33245872-T-G
• gnomAD v4: 1-32780271-T-G
• MyVariant Identifiers: chr1:g.33245872T>G (hg19) ; chr1:g.32780271T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780271T>G , CM000663.2:g.32780271T>G	GRCh38
NC_000001.10:g.33245872T>G , CM000663.1:g.33245872T>G	GRCh37
NC_000001.9:g.33018459T>G	NCBI36
NG_008408.1:g.42762A>C , LRG_273:g.42762A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1001A>C	ENSP00000502019.1:p.Asp334Ala
ENST00000373477.9:c.1148A>C MANE Select	ENSP00000362576.4:p.Asp383Ala
ENST00000674629.1:c.*696A>C	ENSP00000502470.1:n.*696A>C
ENST00000674654.1:c.*1108A>C	ENSP00000501729.1:n.*1108A>C
ENST00000675785.1:c.1001A>C	ENSP00000502019.1:p.Asp334Ala
ENST00000676297.1:c.*1322A>C	ENSP00000501596.1:n.*1322A>C
ENST00000373477.8:c.1148A>C	ENSP00000362576.4:p.Asp383Ala
ENST00000469100.5:n.1064A>C
ENST00000478828.1:n.615A>C
ENST00000487404.5:n.1458A>C
ENST00000490826.1:n.441A>C
ENST00000616261.1:c.1147A>C	ENSP00000484192.1:p.Met383Leu
NM_003680.3:c.1148A>C , LRG_273t1:c.1148A>C	NP_003671.1:p.Asp383Ala
XM_011542347.1:c.518A>C	XP_011540649.1:p.Asp173Ala
XM_011542348.1:c.518A>C	XP_011540650.1:p.Asp173Ala
XM_011542347.2:c.518A>C	XP_011540649.1:p.Asp173Ala
XM_017002651.2:c.518A>C	XP_016858140.1:p.Asp173Ala
NM_003680.4:c.1148A>C MANE Select	NP_003671.1:p.Asp383Ala