Canonical Allele Identifier: CA1239701928

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193673T= , CM000664.2:g.26193673T=	GRCh38
NC_000002.11:g.26416542T= , CM000664.1:g.26416542T=	GRCh37
NC_000002.10:g.26270046T=	NCBI36
NG_007121.1:g.55948A=
NG_007121.2:g.55949A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1789A= (HADHA) MANE Select	ENSP00000370023.3:p.Lys597=
ENST00000492433.2:c.1789A= (HADHA)	ENSP00000438039.2:p.Lys597=
ENST00000643057.1:c.*1680A= (HADHA)	ENSP00000493761.1:n.*1680A=
ENST00000643063.1:c.*835A= (HADHA)	ENSP00000495353.1:n.*835A=
ENST00000643233.1:c.*1680A= (HADHA)	ENSP00000493880.1:n.*1680A=
ENST00000644428.1:c.*413A= (HADHA)	ENSP00000495560.1:n.*413A=
ENST00000645274.1:c.1684A= (HADHA)	ENSP00000493996.1:p.Lys562=
ENST00000646031.1:c.1148A= (HADHA)
ENST00000646483.1:c.1655A= (HADHA)	ENSP00000496185.1:n.1655A=
ENST00000380649.7:c.1789A= (HADHA)	ENSP00000370023.3:p.Lys597=
ENST00000492433.1:c.247A= (HADHA)	ENSP00000438039.1:p.Lys83=
NM_000182.4:c.1789A= (HADHA)	NP_000173.2:p.Lys597=
XM_011532567.1:c.1683+6358T= (GAREM2)	XP_011530869.1:n.1683+6358T=
XM_011532567.3:c.1683+6358T= (GAREM2)	XP_011530869.1:n.1683+6358T=
NM_000182.5:c.1789A= (HADHA) MANE Select	NP_000173.2:p.Lys597=