Canonical Allele Identifier: CA1239705225

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201293A= , CM000664.2:g.26201293A=	GRCh38
NC_000002.11:g.26424162A= , CM000664.1:g.26424162A=	GRCh37
NC_000002.10:g.26277666A=	NCBI36
NG_007121.1:g.48328T=
NG_007121.2:g.48329T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1248T= (HADHA) MANE Select	ENSP00000370023.3:p.Ala416=
ENST00000492433.2:c.1248T= (HADHA)	ENSP00000438039.2:p.Ala416=
ENST00000643057.1:c.*1139T= (HADHA)	ENSP00000493761.1:n.*1139T=
ENST00000643063.1:c.*294T= (HADHA)	ENSP00000495353.1:n.*294T=
ENST00000643233.1:c.*1139T= (HADHA)	ENSP00000493880.1:n.*1139T=
ENST00000644428.1:c.1248T= (HADHA)	ENSP00000495560.1:p.Ala416=
ENST00000645274.1:c.1143T= (HADHA)	ENSP00000493996.1:p.Ala381=
ENST00000646031.1:c.607T= (HADHA)
ENST00000646483.1:c.1114T= (HADHA)	ENSP00000496185.1:n.1114T=
ENST00000380649.7:c.1248T= (HADHA)	ENSP00000370023.3:p.Ala416=
NM_000182.4:c.1248T= (HADHA)	NP_000173.2:p.Ala416=
XM_011532567.1:c.1684-940A= (GAREM2)	XP_011530869.1:n.1684-940A=
XM_011532567.3:c.1684-940A= (GAREM2)	XP_011530869.1:n.1684-940A=
NM_000182.5:c.1248T= (HADHA) MANE Select	NP_000173.2:p.Ala416=