Canonical Allele Identifier: CA346129804

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26427040G>C (hg19) ; chr2:g.26204171G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204171G>C , CM000664.2:g.26204171G>C	GRCh38
NC_000002.11:g.26427040G>C , CM000664.1:g.26427040G>C	GRCh37
NC_000002.10:g.26280544G>C	NCBI36
NG_007121.1:g.45450C>G
NG_007121.2:g.45451C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1111C>G MANE Select	ENSP00000370023.3:p.Leu371Val
ENST00000492433.2:c.1111C>G	ENSP00000438039.2:p.Leu371Val
ENST00000643057.1:c.*1002C>G	ENSP00000493761.1:n.*1002C>G
ENST00000643063.1:c.*157C>G	ENSP00000495353.1:n.*157C>G
ENST00000643233.1:c.*1002C>G	ENSP00000493880.1:n.*1002C>G
ENST00000644428.1:c.1111C>G	ENSP00000495560.1:p.Leu371Val
ENST00000645274.1:c.1006C>G	ENSP00000493996.1:p.Leu336Val
ENST00000646031.1:c.470C>G
ENST00000646483.1:c.977C>G	ENSP00000496185.1:n.977C>G
ENST00000380649.7:c.1111C>G	ENSP00000370023.3:p.Leu371Val
NM_000182.4:c.1111C>G	NP_000173.2:p.Leu371Val
NM_000182.5:c.1111C>G MANE Select	NP_000173.2:p.Leu371Val