Canonical Allele Identifier: CA1239700757

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191280A= , CM000664.2:g.26191280A=	GRCh38
NC_000002.11:g.26414149A= , CM000664.1:g.26414149A=	GRCh37
NC_000002.10:g.26267653A=	NCBI36
NG_007121.1:g.58341T=
NG_007121.2:g.58342T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2262T= (HADHA) MANE Select	ENSP00000370023.3:p.Ala754=
ENST00000492433.2:c.2349T= (HADHA)	ENSP00000438039.2:p.Ala783=
ENST00000643057.1:c.*2240T= (HADHA)	ENSP00000493761.1:n.*2240T=
ENST00000643063.1:c.*1308T= (HADHA)	ENSP00000495353.1:n.*1308T=
ENST00000643233.1:c.*2153T= (HADHA)	ENSP00000493880.1:n.*2153T=
ENST00000644428.1:c.*886T= (HADHA)	ENSP00000495560.1:n.*886T=
ENST00000645274.1:c.2157T= (HADHA)	ENSP00000493996.1:p.Ala719=
ENST00000646031.1:c.1621T= (HADHA)
ENST00000646483.1:c.2128T= (HADHA)	ENSP00000496185.1:n.2128T=
ENST00000380649.7:c.2262T= (HADHA)	ENSP00000370023.3:p.Ala754=
NM_000182.4:c.2262T= (HADHA)	NP_000173.2:p.Ala754=
XM_011532567.1:c.1683+3965A= (GAREM2)	XP_011530869.1:n.1683+3965A=
XM_011532567.3:c.1683+3965A= (GAREM2)	XP_011530869.1:n.1683+3965A=
NM_000182.5:c.2262T= (HADHA) MANE Select	NP_000173.2:p.Ala754=