Canonical Allele Identifier: CA1559656

Gene: HADHA

Linked Data

• dbSNP Id: rs760588476
• ExAC: 2:26427009 A / G
• gnomAD v2: 2-26427009-A-G
• gnomAD v4: 2-26204140-A-G
• MyVariant Identifiers: chr2:g.26427009A>G (hg19) ; chr2:g.26204140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204140A>G , CM000664.2:g.26204140A>G	GRCh38
NC_000002.11:g.26427009A>G , CM000664.1:g.26427009A>G	GRCh37
NC_000002.10:g.26280513A>G	NCBI36
NG_007121.1:g.45481T>C
NG_007121.2:g.45482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1142T>C MANE Select	ENSP00000370023.3:p.Val381Ala
ENST00000492433.2:c.1142T>C	ENSP00000438039.2:p.Val381Ala
ENST00000643057.1:c.*1033T>C	ENSP00000493761.1:n.*1033T>C
ENST00000643063.1:c.*188T>C	ENSP00000495353.1:n.*188T>C
ENST00000643233.1:c.*1033T>C	ENSP00000493880.1:n.*1033T>C
ENST00000644428.1:c.1142T>C	ENSP00000495560.1:p.Val381Ala
ENST00000645274.1:c.1037T>C	ENSP00000493996.1:p.Val346Ala
ENST00000646031.1:c.501T>C
ENST00000646483.1:c.1008T>C	ENSP00000496185.1:n.1008T>C
ENST00000380649.7:c.1142T>C	ENSP00000370023.3:p.Val381Ala
NM_000182.4:c.1142T>C	NP_000173.2:p.Val381Ala
NM_000182.5:c.1142T>C MANE Select	NP_000173.2:p.Val381Ala