Canonical Allele Identifier: CA1239700833

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191429C= , CM000664.2:g.26191429C=	GRCh38
NC_000002.11:g.26414298C= , CM000664.1:g.26414298C=	GRCh37
NC_000002.10:g.26267802C=	NCBI36
NG_007121.1:g.58192G=
NG_007121.2:g.58193G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-34G= (HADHA) MANE Select	ENSP00000370023.3:n.2147-34G=
ENST00000492433.2:c.2200G= (HADHA)	ENSP00000438039.2:p.Val734=
ENST00000643057.1:c.*2091G= (HADHA)	ENSP00000493761.1:n.*2091G=
ENST00000643063.1:c.*1193-34G= (HADHA)	ENSP00000495353.1:n.*1193-34G=
ENST00000643233.1:c.*2038-34G= (HADHA)	ENSP00000493880.1:n.*2038-34G=
ENST00000644428.1:c.*771-34G= (HADHA)	ENSP00000495560.1:n.*771-34G=
ENST00000645274.1:c.2042-34G= (HADHA)	ENSP00000493996.1:n.2042-34G=
ENST00000646031.1:c.1506-34G= (HADHA)
ENST00000646483.1:c.2013-34G= (HADHA)	ENSP00000496185.1:n.2013-34G=
ENST00000380649.7:c.2147-34G= (HADHA)	ENSP00000370023.3:n.2147-34G=
ENST00000492433.1:c.658G= (HADHA)	ENSP00000438039.1:p.Val220=
NM_000182.4:c.2147-34G= (HADHA)	NP_000173.2:n.2147-34G=
XM_011532567.1:c.1683+4114C= (GAREM2)	XP_011530869.1:n.1683+4114C=
XM_011532567.3:c.1683+4114C= (GAREM2)	XP_011530869.1:n.1683+4114C=
NM_000182.5:c.2147-34G= (HADHA) MANE Select	NP_000173.2:n.2147-34G=