Canonical Allele Identifier: CA1239700747

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191261A= , CM000664.2:g.26191261A=	GRCh38
NC_000002.11:g.26414130A= , CM000664.1:g.26414130A=	GRCh37
NC_000002.10:g.26267634A=	NCBI36
NG_007121.1:g.58360T=
NG_007121.2:g.58361T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2281T= (HADHA) MANE Select	ENSP00000370023.3:p.Phe761=
ENST00000492433.2:c.2368T= (HADHA)	ENSP00000438039.2:p.Phe790=
ENST00000643057.1:c.*2259T= (HADHA)	ENSP00000493761.1:n.*2259T=
ENST00000643063.1:c.*1327T= (HADHA)	ENSP00000495353.1:n.*1327T=
ENST00000643233.1:c.*2172T= (HADHA)	ENSP00000493880.1:n.*2172T=
ENST00000644428.1:c.*905T= (HADHA)	ENSP00000495560.1:n.*905T=
ENST00000645274.1:c.2176T= (HADHA)	ENSP00000493996.1:p.Phe726=
ENST00000646031.1:c.1640T= (HADHA)
ENST00000646483.1:c.2147T= (HADHA)	ENSP00000496185.1:n.2147T=
ENST00000380649.7:c.2281T= (HADHA)	ENSP00000370023.3:p.Phe761=
NM_000182.4:c.2281T= (HADHA)	NP_000173.2:p.Phe761=
XM_011532567.1:c.1683+3946A= (GAREM2)	XP_011530869.1:n.1683+3946A=
XM_011532567.3:c.1683+3946A= (GAREM2)	XP_011530869.1:n.1683+3946A=
NM_000182.5:c.2281T= (HADHA) MANE Select	NP_000173.2:p.Phe761=