Canonical Allele Identifier: CA1239700837

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191436C= , CM000664.2:g.26191436C=	GRCh38
NC_000002.11:g.26414305C= , CM000664.1:g.26414305C=	GRCh37
NC_000002.10:g.26267809C=	NCBI36
NG_007121.1:g.58185G=
NG_007121.2:g.58186G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-41G= (HADHA) MANE Select	ENSP00000370023.3:n.2147-41G=
ENST00000492433.2:c.2193G= (HADHA)	ENSP00000438039.2:p.Pro731=
ENST00000643057.1:c.*2084G= (HADHA)	ENSP00000493761.1:n.*2084G=
ENST00000643063.1:c.*1193-41G= (HADHA)	ENSP00000495353.1:n.*1193-41G=
ENST00000643233.1:c.*2038-41G= (HADHA)	ENSP00000493880.1:n.*2038-41G=
ENST00000644428.1:c.*771-41G= (HADHA)	ENSP00000495560.1:n.*771-41G=
ENST00000645274.1:c.2042-41G= (HADHA)	ENSP00000493996.1:n.2042-41G=
ENST00000646031.1:c.1506-41G= (HADHA)
ENST00000646483.1:c.2013-41G= (HADHA)	ENSP00000496185.1:n.2013-41G=
ENST00000380649.7:c.2147-41G= (HADHA)	ENSP00000370023.3:n.2147-41G=
ENST00000492433.1:c.651G= (HADHA)	ENSP00000438039.1:p.Pro217=
NM_000182.4:c.2147-41G= (HADHA)	NP_000173.2:n.2147-41G=
XM_011532567.1:c.1683+4121C= (GAREM2)	XP_011530869.1:n.1683+4121C=
XM_011532567.3:c.1683+4121C= (GAREM2)	XP_011530869.1:n.1683+4121C=
NM_000182.5:c.2147-41G= (HADHA) MANE Select	NP_000173.2:n.2147-41G=