Canonical Allele Identifier: CA1239700712

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191192A= , CM000664.2:g.26191192A=	GRCh38
NC_000002.11:g.26414061A= , CM000664.1:g.26414061A=	GRCh37
NC_000002.10:g.26267565A=	NCBI36
NG_007121.1:g.58429T=
NG_007121.2:g.58430T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*58T= (HADHA) MANE Select	ENSP00000370023.3:n.*58T=
ENST00000492433.2:c.*58T= (HADHA)	ENSP00000438039.2:n.*58T=
ENST00000643057.1:c.*2328T= (HADHA)	ENSP00000493761.1:n.*2328T=
ENST00000643063.1:c.*1396T= (HADHA)	ENSP00000495353.1:n.*1396T=
ENST00000643233.1:c.*2241T= (HADHA)	ENSP00000493880.1:n.*2241T=
ENST00000644428.1:c.*974T= (HADHA)	ENSP00000495560.1:n.*974T=
ENST00000645274.1:c.*58T= (HADHA)	ENSP00000493996.1:n.*58T=
ENST00000646031.1:c.1709T= (HADHA)
ENST00000380649.7:c.*58T= (HADHA)	ENSP00000370023.3:n.*58T=
NM_000182.4:c.*58T= (HADHA)	NP_000173.2:n.*58T=
XM_011532567.1:c.1683+3877A= (GAREM2)	XP_011530869.1:n.1683+3877A=
XM_011532567.3:c.1683+3877A= (GAREM2)	XP_011530869.1:n.1683+3877A=
NM_000182.5:c.*58T= (HADHA) MANE Select	NP_000173.2:n.*58T=