Canonical Allele Identifier: CA1239700759

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191290G= , CM000664.2:g.26191290G=	GRCh38
NC_000002.11:g.26414159G= , CM000664.1:g.26414159G=	GRCh37
NC_000002.10:g.26267663G=	NCBI36
NG_007121.1:g.58331C=
NG_007121.2:g.58332C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2252C= (HADHA) MANE Select	ENSP00000370023.3:p.Ala751=
ENST00000492433.2:c.2339C= (HADHA)	ENSP00000438039.2:p.Ala780=
ENST00000643057.1:c.*2230C= (HADHA)	ENSP00000493761.1:n.*2230C=
ENST00000643063.1:c.*1298C= (HADHA)	ENSP00000495353.1:n.*1298C=
ENST00000643233.1:c.*2143C= (HADHA)	ENSP00000493880.1:n.*2143C=
ENST00000644428.1:c.*876C= (HADHA)	ENSP00000495560.1:n.*876C=
ENST00000645274.1:c.2147C= (HADHA)	ENSP00000493996.1:p.Ala716=
ENST00000646031.1:c.1611C= (HADHA)
ENST00000646483.1:c.2118C= (HADHA)	ENSP00000496185.1:n.2118C=
ENST00000380649.7:c.2252C= (HADHA)	ENSP00000370023.3:p.Ala751=
NM_000182.4:c.2252C= (HADHA)	NP_000173.2:p.Ala751=
XM_011532567.1:c.1683+3975G= (GAREM2)	XP_011530869.1:n.1683+3975G=
XM_011532567.3:c.1683+3975G= (GAREM2)	XP_011530869.1:n.1683+3975G=
NM_000182.5:c.2252C= (HADHA) MANE Select	NP_000173.2:p.Ala751=