Canonical Allele Identifier: CA425201570

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26427059C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204190C>A , CM000664.2:g.26204190C>A	GRCh38
NC_000002.11:g.26427059C>A , CM000664.1:g.26427059C>A	GRCh37
NC_000002.10:g.26280563C>A	NCBI36
NG_007121.1:g.45431G>T
NG_007121.2:g.45432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1092G>T MANE Select	ENSP00000370023.3:p.Leu364=
ENST00000492433.2:c.1092G>T	ENSP00000438039.2:p.Leu364=
ENST00000643057.1:c.*983G>T	ENSP00000493761.1:n.*983G>T
ENST00000643063.1:c.*138G>T	ENSP00000495353.1:n.*138G>T
ENST00000643233.1:c.*983G>T	ENSP00000493880.1:n.*983G>T
ENST00000644428.1:c.1092G>T	ENSP00000495560.1:p.Leu364=
ENST00000645274.1:c.987G>T	ENSP00000493996.1:p.Leu329=
ENST00000646031.1:c.451G>T
ENST00000646483.1:c.958G>T	ENSP00000496185.1:n.958G>T
ENST00000380649.7:c.1092G>T	ENSP00000370023.3:p.Leu364=
NM_000182.4:c.1092G>T	NP_000173.2:p.Leu364=
NM_000182.5:c.1092G>T MANE Select	NP_000173.2:p.Leu364=