Canonical Allele Identifier: CA1239700750

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191265C= , CM000664.2:g.26191265C=	GRCh38
NC_000002.11:g.26414134C= , CM000664.1:g.26414134C=	GRCh37
NC_000002.10:g.26267638C=	NCBI36
NG_007121.1:g.58356G=
NG_007121.2:g.58357G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2277G= (HADHA) MANE Select	ENSP00000370023.3:p.Lys759=
ENST00000492433.2:c.2364G= (HADHA)	ENSP00000438039.2:p.Lys788=
ENST00000643057.1:c.*2255G= (HADHA)	ENSP00000493761.1:n.*2255G=
ENST00000643063.1:c.*1323G= (HADHA)	ENSP00000495353.1:n.*1323G=
ENST00000643233.1:c.*2168G= (HADHA)	ENSP00000493880.1:n.*2168G=
ENST00000644428.1:c.*901G= (HADHA)	ENSP00000495560.1:n.*901G=
ENST00000645274.1:c.2172G= (HADHA)	ENSP00000493996.1:p.Lys724=
ENST00000646031.1:c.1636G= (HADHA)
ENST00000646483.1:c.2143G= (HADHA)	ENSP00000496185.1:n.2143G=
ENST00000380649.7:c.2277G= (HADHA)	ENSP00000370023.3:p.Lys759=
NM_000182.4:c.2277G= (HADHA)	NP_000173.2:p.Lys759=
XM_011532567.1:c.1683+3950C= (GAREM2)	XP_011530869.1:n.1683+3950C=
XM_011532567.3:c.1683+3950C= (GAREM2)	XP_011530869.1:n.1683+3950C=
NM_000182.5:c.2277G= (HADHA) MANE Select	NP_000173.2:p.Lys759=