Canonical Allele Identifier: CA1239700880
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191508C= , CM000664.2:g.26191508C= GRCh38
NC_000002.11:g.26414377C= , CM000664.1:g.26414377C= GRCh37
NC_000002.10:g.26267881C= NCBI36
NG_007121.1:g.58113G=
NG_007121.2:g.58114G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2121G= (HADHA) MANE Select ENSP00000370023.3:p.Gly707=
ENST00000492433.2:c.2121G= (HADHA) ENSP00000438039.2:p.Gly707=
ENST00000643057.1:c.*2012G= (HADHA) ENSP00000493761.1:n.*2012G=
ENST00000643063.1:c.*1167G= (HADHA) ENSP00000495353.1:n.*1167G=
ENST00000643233.1:c.*2012G= (HADHA) ENSP00000493880.1:n.*2012G=
ENST00000644428.1:c.*745G= (HADHA) ENSP00000495560.1:n.*745G=
ENST00000645274.1:c.2016G= (HADHA) ENSP00000493996.1:p.Gly672=
ENST00000646031.1:c.1480G= (HADHA)
ENST00000646483.1:c.1987G= (HADHA) ENSP00000496185.1:n.1987G=
ENST00000380649.7:c.2121G= (HADHA) ENSP00000370023.3:p.Gly707=
ENST00000492433.1:c.579G= (HADHA) ENSP00000438039.1:p.Gly193=
NM_000182.4:c.2121G= (HADHA) NP_000173.2:p.Gly707=
XM_011532567.1:c.1683+4193C= (GAREM2) XP_011530869.1:n.1683+4193C=
XM_011532567.3:c.1683+4193C= (GAREM2) XP_011530869.1:n.1683+4193C=
NM_000182.5:c.2121G= (HADHA) MANE Select NP_000173.2:p.Gly707=