Canonical Allele Identifier: CA346129364

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26427003T>C (hg19) ; chr2:g.26204134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204134T>C , CM000664.2:g.26204134T>C	GRCh38
NC_000002.11:g.26427003T>C , CM000664.1:g.26427003T>C	GRCh37
NC_000002.10:g.26280507T>C	NCBI36
NG_007121.1:g.45487A>G
NG_007121.2:g.45488A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1148A>G MANE Select	ENSP00000370023.3:p.Lys383Arg
ENST00000492433.2:c.1148A>G	ENSP00000438039.2:p.Lys383Arg
ENST00000643057.1:c.*1039A>G	ENSP00000493761.1:n.*1039A>G
ENST00000643063.1:c.*194A>G	ENSP00000495353.1:n.*194A>G
ENST00000643233.1:c.*1039A>G	ENSP00000493880.1:n.*1039A>G
ENST00000644428.1:c.1148A>G	ENSP00000495560.1:p.Lys383Arg
ENST00000645274.1:c.1043A>G	ENSP00000493996.1:p.Lys348Arg
ENST00000646031.1:c.507A>G
ENST00000646483.1:c.1014A>G	ENSP00000496185.1:n.1014A>G
ENST00000380649.7:c.1148A>G	ENSP00000370023.3:p.Lys383Arg
NM_000182.4:c.1148A>G	NP_000173.2:p.Lys383Arg
NM_000182.5:c.1148A>G MANE Select	NP_000173.2:p.Lys383Arg