Canonical Allele Identifier: CA1239706416

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204152G= , CM000664.2:g.26204152G=	GRCh38
NC_000002.11:g.26427021G= , CM000664.1:g.26427021G=	GRCh37
NC_000002.10:g.26280525G=	NCBI36
NG_007121.1:g.45469C=
NG_007121.2:g.45470C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1130C= MANE Select	ENSP00000370023.3:p.Ala377=
ENST00000492433.2:c.1130C=	ENSP00000438039.2:p.Ala377=
ENST00000643057.1:c.*1021C=	ENSP00000493761.1:n.*1021C=
ENST00000643063.1:c.*176C=	ENSP00000495353.1:n.*176C=
ENST00000643233.1:c.*1021C=	ENSP00000493880.1:n.*1021C=
ENST00000644428.1:c.1130C=	ENSP00000495560.1:p.Ala377=
ENST00000645274.1:c.1025C=	ENSP00000493996.1:p.Ala342=
ENST00000646031.1:c.489C=
ENST00000646483.1:c.996C=	ENSP00000496185.1:n.996C=
ENST00000380649.7:c.1130C=	ENSP00000370023.3:p.Ala377=
NM_000182.4:c.1130C=	NP_000173.2:p.Ala377=
NM_000182.5:c.1130C= MANE Select	NP_000173.2:p.Ala377=