Canonical Allele Identifier: CA1239700871

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191493A= , CM000664.2:g.26191493A=	GRCh38
NC_000002.11:g.26414362A= , CM000664.1:g.26414362A=	GRCh37
NC_000002.10:g.26267866A=	NCBI36
NG_007121.1:g.58128T=
NG_007121.2:g.58129T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.2136T= (HADHA) MANE Select	ENSP00000370023.3:p.Pro712=
ENST00000492433.2:c.2136T= (HADHA)	ENSP00000438039.2:p.Pro712=
ENST00000643057.1:c.*2027T= (HADHA)	ENSP00000493761.1:n.*2027T=
ENST00000643063.1:c.*1182T= (HADHA)	ENSP00000495353.1:n.*1182T=
ENST00000643233.1:c.*2027T= (HADHA)	ENSP00000493880.1:n.*2027T=
ENST00000644428.1:c.*760T= (HADHA)	ENSP00000495560.1:n.*760T=
ENST00000645274.1:c.2031T= (HADHA)	ENSP00000493996.1:p.Pro677=
ENST00000646031.1:c.1495T= (HADHA)
ENST00000646483.1:c.2002T= (HADHA)	ENSP00000496185.1:n.2002T=
ENST00000380649.7:c.2136T= (HADHA)	ENSP00000370023.3:p.Pro712=
ENST00000492433.1:c.594T= (HADHA)	ENSP00000438039.1:p.Pro198=
NM_000182.4:c.2136T= (HADHA)	NP_000173.2:p.Pro712=
XM_011532567.1:c.1683+4178A= (GAREM2)	XP_011530869.1:n.1683+4178A=
XM_011532567.3:c.1683+4178A= (GAREM2)	XP_011530869.1:n.1683+4178A=
NM_000182.5:c.2136T= (HADHA) MANE Select	NP_000173.2:p.Pro712=