Canonical Allele Identifier: CA1239700805

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191388G= , CM000664.2:g.26191388G=	GRCh38
NC_000002.11:g.26414257G= , CM000664.1:g.26414257G=	GRCh37
NC_000002.10:g.26267761G=	NCBI36
NG_007121.1:g.58233C=
NG_007121.2:g.58234C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2154C= (HADHA) MANE Select	ENSP00000370023.3:p.Phe718=
ENST00000492433.2:c.2241C= (HADHA)	ENSP00000438039.2:p.Phe747=
ENST00000643057.1:c.*2132C= (HADHA)	ENSP00000493761.1:n.*2132C=
ENST00000643063.1:c.*1200C= (HADHA)	ENSP00000495353.1:n.*1200C=
ENST00000643233.1:c.*2045C= (HADHA)	ENSP00000493880.1:n.*2045C=
ENST00000644428.1:c.*778C= (HADHA)	ENSP00000495560.1:n.*778C=
ENST00000645274.1:c.2049C= (HADHA)	ENSP00000493996.1:p.Phe683=
ENST00000646031.1:c.1513C= (HADHA)
ENST00000646483.1:c.2020C= (HADHA)	ENSP00000496185.1:n.2020C=
ENST00000380649.7:c.2154C= (HADHA)	ENSP00000370023.3:p.Phe718=
ENST00000492433.1:c.699C= (HADHA)	ENSP00000438039.1:p.Phe233=
NM_000182.4:c.2154C= (HADHA)	NP_000173.2:p.Phe718=
XM_011532567.1:c.1683+4073G= (GAREM2)	XP_011530869.1:n.1683+4073G=
XM_011532567.3:c.1683+4073G= (GAREM2)	XP_011530869.1:n.1683+4073G=
NM_000182.5:c.2154C= (HADHA) MANE Select	NP_000173.2:p.Phe718=