Canonical Allele Identifier: CA1239702537

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195097C= , CM000664.2:g.26195097C=	GRCh38
NC_000002.11:g.26417966C= , CM000664.1:g.26417966C=	GRCh37
NC_000002.10:g.26271470C=	NCBI36
NG_007121.1:g.54524G=
NG_007121.2:g.54525G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1615G= (HADHA) MANE Select	ENSP00000370023.3:p.Val539=
ENST00000492433.2:c.1615G= (HADHA)	ENSP00000438039.2:p.Val539=
ENST00000643057.1:c.*1506G= (HADHA)	ENSP00000493761.1:n.*1506G=
ENST00000643063.1:c.*661G= (HADHA)	ENSP00000495353.1:n.*661G=
ENST00000643233.1:c.*1506G= (HADHA)	ENSP00000493880.1:n.*1506G=
ENST00000644428.1:c.*239G= (HADHA)	ENSP00000495560.1:n.*239G=
ENST00000645274.1:c.1510G= (HADHA)	ENSP00000493996.1:p.Val504=
ENST00000646031.1:c.974G= (HADHA)
ENST00000646483.1:c.1481G= (HADHA)	ENSP00000496185.1:n.1481G=
ENST00000380649.7:c.1615G= (HADHA)	ENSP00000370023.3:p.Val539=
ENST00000492433.1:c.73G= (HADHA)	ENSP00000438039.1:p.Val25=
NM_000182.4:c.1615G= (HADHA)	NP_000173.2:p.Val539=
XM_011532567.1:c.1684-7136C= (GAREM2)	XP_011530869.1:n.1684-7136C=
XM_011532567.3:c.1684-7136C= (GAREM2)	XP_011530869.1:n.1684-7136C=
NM_000182.5:c.1615G= (HADHA) MANE Select	NP_000173.2:p.Val539=