Canonical Allele Identifier: CA346129370

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26427004T>A (hg19) ; chr2:g.26204135T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204135T>A , CM000664.2:g.26204135T>A	GRCh38
NC_000002.11:g.26427004T>A , CM000664.1:g.26427004T>A	GRCh37
NC_000002.10:g.26280508T>A	NCBI36
NG_007121.1:g.45486A>T
NG_007121.2:g.45487A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1147A>T MANE Select	ENSP00000370023.3:p.Lys383Ter
ENST00000492433.2:c.1147A>T	ENSP00000438039.2:p.Lys383Ter
ENST00000643057.1:c.*1038A>T	ENSP00000493761.1:n.*1038A>T
ENST00000643063.1:c.*193A>T	ENSP00000495353.1:n.*193A>T
ENST00000643233.1:c.*1038A>T	ENSP00000493880.1:n.*1038A>T
ENST00000644428.1:c.1147A>T	ENSP00000495560.1:p.Lys383Ter
ENST00000645274.1:c.1042A>T	ENSP00000493996.1:p.Lys348Ter
ENST00000646031.1:c.506A>T
ENST00000646483.1:c.1013A>T	ENSP00000496185.1:n.1013A>T
ENST00000380649.7:c.1147A>T	ENSP00000370023.3:p.Lys383Ter
NM_000182.4:c.1147A>T	NP_000173.2:p.Lys383Ter
NM_000182.5:c.1147A>T MANE Select	NP_000173.2:p.Lys383Ter