Canonical Allele Identifier: CA339681833

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780253-A-G
• MyVariant Identifiers: chr1:g.33245854A>G (hg19) ; chr1:g.32780253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780253A>G , CM000663.2:g.32780253A>G	GRCh38
NC_000001.10:g.33245854A>G , CM000663.1:g.33245854A>G	GRCh37
NC_000001.9:g.33018441A>G	NCBI36
NG_008408.1:g.42780T>C , LRG_273:g.42780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1019T>C	ENSP00000502019.1:p.Val340Ala
ENST00000373477.9:c.1166T>C MANE Select	ENSP00000362576.4:p.Val389Ala
ENST00000674629.1:c.*714T>C	ENSP00000502470.1:n.*714T>C
ENST00000674654.1:c.*1126T>C	ENSP00000501729.1:n.*1126T>C
ENST00000675785.1:c.1019T>C	ENSP00000502019.1:p.Val340Ala
ENST00000676297.1:c.*1340T>C	ENSP00000501596.1:n.*1340T>C
ENST00000373477.8:c.1166T>C	ENSP00000362576.4:p.Val389Ala
ENST00000469100.5:n.1082T>C
ENST00000478828.1:n.633T>C
ENST00000487404.5:n.1476T>C
ENST00000490826.1:n.459T>C
ENST00000616261.1:c.1165T>C	ENSP00000484192.1:p.Ter389Gln
NM_003680.3:c.1166T>C , LRG_273t1:c.1166T>C	NP_003671.1:p.Val389Ala
XM_011542347.1:c.536T>C	XP_011540649.1:p.Val179Ala
XM_011542348.1:c.536T>C	XP_011540650.1:p.Val179Ala
XM_011542347.2:c.536T>C	XP_011540649.1:p.Val179Ala
XM_017002651.2:c.536T>C	XP_016858140.1:p.Val179Ala
NM_003680.4:c.1166T>C MANE Select	NP_003671.1:p.Val389Ala