Canonical Allele Identifier: CA346129595

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26427021G>T (hg19) ; chr2:g.26204152G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1130C>A MANE Select	ENSP00000370023.3:p.Ala377Asp
ENST00000492433.2:c.1130C>A	ENSP00000438039.2:p.Ala377Asp
ENST00000643057.1:c.*1021C>A	ENSP00000493761.1:n.*1021C>A
ENST00000643063.1:c.*176C>A	ENSP00000495353.1:n.*176C>A
ENST00000643233.1:c.*1021C>A	ENSP00000493880.1:n.*1021C>A
ENST00000644428.1:c.1130C>A	ENSP00000495560.1:p.Ala377Asp
ENST00000645274.1:c.1025C>A	ENSP00000493996.1:p.Ala342Asp
ENST00000646031.1:c.489C>A
ENST00000646483.1:c.996C>A	ENSP00000496185.1:n.996C>A
ENST00000380649.7:c.1130C>A	ENSP00000370023.3:p.Ala377Asp
NM_000182.4:c.1130C>A	NP_000173.2:p.Ala377Asp
NM_000182.5:c.1130C>A MANE Select	NP_000173.2:p.Ala377Asp