Canonical Allele Identifier: CA1239700746

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191259G= , CM000664.2:g.26191259G=	GRCh38
NC_000002.11:g.26414128G= , CM000664.1:g.26414128G=	GRCh37
NC_000002.10:g.26267632G=	NCBI36
NG_007121.1:g.58362C=
NG_007121.2:g.58363C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2283C= (HADHA) MANE Select	ENSP00000370023.3:p.Phe761=
ENST00000492433.2:c.2370C= (HADHA)	ENSP00000438039.2:p.Phe790=
ENST00000643057.1:c.*2261C= (HADHA)	ENSP00000493761.1:n.*2261C=
ENST00000643063.1:c.*1329C= (HADHA)	ENSP00000495353.1:n.*1329C=
ENST00000643233.1:c.*2174C= (HADHA)	ENSP00000493880.1:n.*2174C=
ENST00000644428.1:c.*907C= (HADHA)	ENSP00000495560.1:n.*907C=
ENST00000645274.1:c.2178C= (HADHA)	ENSP00000493996.1:p.Phe726=
ENST00000646031.1:c.1642C= (HADHA)
ENST00000646483.1:c.2149C= (HADHA)	ENSP00000496185.1:n.2149C=
ENST00000380649.7:c.2283C= (HADHA)	ENSP00000370023.3:p.Phe761=
NM_000182.4:c.2283C= (HADHA)	NP_000173.2:p.Phe761=
XM_011532567.1:c.1683+3944G= (GAREM2)	XP_011530869.1:n.1683+3944G=
XM_011532567.3:c.1683+3944G= (GAREM2)	XP_011530869.1:n.1683+3944G=
NM_000182.5:c.2283C= (HADHA) MANE Select	NP_000173.2:p.Phe761=