Canonical Allele Identifier: CA425201406

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26426975G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204106G>A , CM000664.2:g.26204106G>A	GRCh38
NC_000002.11:g.26426975G>A , CM000664.1:g.26426975G>A	GRCh37
NC_000002.10:g.26280479G>A	NCBI36
NG_007121.1:g.45515C>T
NG_007121.2:g.45516C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1176C>T MANE Select	ENSP00000370023.3:p.Ala392=
ENST00000492433.2:c.1176C>T	ENSP00000438039.2:p.Ala392=
ENST00000643057.1:c.*1067C>T	ENSP00000493761.1:n.*1067C>T
ENST00000643063.1:c.*222C>T	ENSP00000495353.1:n.*222C>T
ENST00000643233.1:c.*1067C>T	ENSP00000493880.1:n.*1067C>T
ENST00000644428.1:c.1176C>T	ENSP00000495560.1:p.Ala392=
ENST00000645274.1:c.1071C>T	ENSP00000493996.1:p.Ala357=
ENST00000646031.1:c.535C>T
ENST00000646483.1:c.1042C>T	ENSP00000496185.1:n.1042C>T
ENST00000380649.7:c.1176C>T	ENSP00000370023.3:p.Ala392=
NM_000182.4:c.1176C>T	NP_000173.2:p.Ala392=
NM_000182.5:c.1176C>T MANE Select	NP_000173.2:p.Ala392=