Canonical Allele Identifier: CA346129142

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26426988A>T (hg19) ; chr2:g.26204119A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204119A>T , CM000664.2:g.26204119A>T	GRCh38
NC_000002.11:g.26426988A>T , CM000664.1:g.26426988A>T	GRCh37
NC_000002.10:g.26280492A>T	NCBI36
NG_007121.1:g.45502T>A
NG_007121.2:g.45503T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1163T>A MANE Select	ENSP00000370023.3:p.Ile388Lys
ENST00000492433.2:c.1163T>A	ENSP00000438039.2:p.Ile388Lys
ENST00000643057.1:c.*1054T>A	ENSP00000493761.1:n.*1054T>A
ENST00000643063.1:c.*209T>A	ENSP00000495353.1:n.*209T>A
ENST00000643233.1:c.*1054T>A	ENSP00000493880.1:n.*1054T>A
ENST00000644428.1:c.1163T>A	ENSP00000495560.1:p.Ile388Lys
ENST00000645274.1:c.1058T>A	ENSP00000493996.1:p.Ile353Lys
ENST00000646031.1:c.522T>A
ENST00000646483.1:c.1029T>A	ENSP00000496185.1:n.1029T>A
ENST00000380649.7:c.1163T>A	ENSP00000370023.3:p.Ile388Lys
NM_000182.4:c.1163T>A	NP_000173.2:p.Ile388Lys
NM_000182.5:c.1163T>A MANE Select	NP_000173.2:p.Ile388Lys