Canonical Allele Identifier: CA1239706410

Gene: HADHA

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1142T= MANE Select	ENSP00000370023.3:p.Val381=
ENST00000492433.2:c.1142T=	ENSP00000438039.2:p.Val381=
ENST00000643057.1:c.*1033T=	ENSP00000493761.1:n.*1033T=
ENST00000643063.1:c.*188T=	ENSP00000495353.1:n.*188T=
ENST00000643233.1:c.*1033T=	ENSP00000493880.1:n.*1033T=
ENST00000644428.1:c.1142T=	ENSP00000495560.1:p.Val381=
ENST00000645274.1:c.1037T=	ENSP00000493996.1:p.Val346=
ENST00000646031.1:c.501T=
ENST00000646483.1:c.1008T=	ENSP00000496185.1:n.1008T=
ENST00000380649.7:c.1142T=	ENSP00000370023.3:p.Val381=
NM_000182.4:c.1142T=	NP_000173.2:p.Val381=
NM_000182.5:c.1142T= MANE Select	NP_000173.2:p.Val381=