Canonical Allele Identifier: CA1239701884

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193579A= , CM000664.2:g.26193579A=	GRCh38
NC_000002.11:g.26416448A= , CM000664.1:g.26416448A=	GRCh37
NC_000002.10:g.26269952A=	NCBI36
NG_007121.1:g.56042T=
NG_007121.2:g.56043T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1883T= (HADHA) MANE Select	ENSP00000370023.3:p.Leu628=
ENST00000492433.2:c.1883T= (HADHA)	ENSP00000438039.2:p.Leu628=
ENST00000643057.1:c.*1774T= (HADHA)	ENSP00000493761.1:n.*1774T=
ENST00000643063.1:c.*929T= (HADHA)	ENSP00000495353.1:n.*929T=
ENST00000643233.1:c.*1774T= (HADHA)	ENSP00000493880.1:n.*1774T=
ENST00000644428.1:c.*507T= (HADHA)	ENSP00000495560.1:n.*507T=
ENST00000645274.1:c.1778T= (HADHA)	ENSP00000493996.1:p.Leu593=
ENST00000646031.1:c.1242T= (HADHA)
ENST00000646483.1:c.1749T= (HADHA)	ENSP00000496185.1:n.1749T=
ENST00000380649.7:c.1883T= (HADHA)	ENSP00000370023.3:p.Leu628=
ENST00000492433.1:c.341T= (HADHA)	ENSP00000438039.1:p.Leu114=
NM_000182.4:c.1883T= (HADHA)	NP_000173.2:p.Leu628=
XM_011532567.1:c.1683+6264A= (GAREM2)	XP_011530869.1:n.1683+6264A=
XM_011532567.3:c.1683+6264A= (GAREM2)	XP_011530869.1:n.1683+6264A=
NM_000182.5:c.1883T= (HADHA) MANE Select	NP_000173.2:p.Leu628=