Canonical Allele Identifier: CA1239705187

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201191C= , CM000664.2:g.26201191C=	GRCh38
NC_000002.11:g.26424060C= , CM000664.1:g.26424060C=	GRCh37
NC_000002.10:g.26277564C=	NCBI36
NG_007121.1:g.48430G=
NG_007121.2:g.48431G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1350G= (HADHA) MANE Select	ENSP00000370023.3:p.Glu450=
ENST00000492433.2:c.1350G= (HADHA)	ENSP00000438039.2:p.Glu450=
ENST00000643057.1:c.*1241G= (HADHA)	ENSP00000493761.1:n.*1241G=
ENST00000643063.1:c.*396G= (HADHA)	ENSP00000495353.1:n.*396G=
ENST00000643233.1:c.*1241G= (HADHA)	ENSP00000493880.1:n.*1241G=
ENST00000644428.1:c.1350G= (HADHA)	ENSP00000495560.1:p.Glu450=
ENST00000645274.1:c.1245G= (HADHA)	ENSP00000493996.1:p.Glu415=
ENST00000646031.1:c.709G= (HADHA)
ENST00000646483.1:c.1216G= (HADHA)	ENSP00000496185.1:n.1216G=
ENST00000380649.7:c.1350G= (HADHA)	ENSP00000370023.3:p.Glu450=
NM_000182.4:c.1350G= (HADHA)	NP_000173.2:p.Glu450=
XM_011532567.1:c.1684-1042C= (GAREM2)	XP_011530869.1:n.1684-1042C=
XM_011532567.3:c.1684-1042C= (GAREM2)	XP_011530869.1:n.1684-1042C=
NM_000182.5:c.1350G= (HADHA) MANE Select	NP_000173.2:p.Glu450=