Canonical Allele Identifier: CA1239701258

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192352T= , CM000664.2:g.26192352T=	GRCh38
NC_000002.11:g.26415221T= , CM000664.1:g.26415221T=	GRCh37
NC_000002.10:g.26268725T=	NCBI36
NG_007121.1:g.57269A=
NG_007121.2:g.57270A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1958A= (HADHA) MANE Select	ENSP00000370023.3:p.Asp653=
ENST00000492433.2:c.1958A= (HADHA)	ENSP00000438039.2:p.Asp653=
ENST00000643057.1:c.*1849A= (HADHA)	ENSP00000493761.1:n.*1849A=
ENST00000643063.1:c.*1004A= (HADHA)	ENSP00000495353.1:n.*1004A=
ENST00000643233.1:c.*1849A= (HADHA)	ENSP00000493880.1:n.*1849A=
ENST00000644428.1:c.*582A= (HADHA)	ENSP00000495560.1:n.*582A=
ENST00000645274.1:c.1853A= (HADHA)	ENSP00000493996.1:p.Asp618=
ENST00000646031.1:c.1317A= (HADHA)
ENST00000646483.1:c.1824A= (HADHA)	ENSP00000496185.1:n.1824A=
ENST00000380649.7:c.1958A= (HADHA)	ENSP00000370023.3:p.Asp653=
ENST00000492433.1:c.416A= (HADHA)	ENSP00000438039.1:p.Asp139=
NM_000182.4:c.1958A= (HADHA)	NP_000173.2:p.Asp653=
XM_011532567.1:c.1683+5037T= (GAREM2)	XP_011530869.1:n.1683+5037T=
XM_011532567.3:c.1683+5037T= (GAREM2)	XP_011530869.1:n.1683+5037T=
NM_000182.5:c.1958A= (HADHA) MANE Select	NP_000173.2:p.Asp653=