Canonical Allele Identifier: CA1239700743
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191253C= , CM000664.2:g.26191253C= GRCh38
NC_000002.11:g.26414122C= , CM000664.1:g.26414122C= GRCh37
NC_000002.10:g.26267626C= NCBI36
NG_007121.1:g.58368G=
NG_007121.2:g.58369G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2289G= (HADHA) MANE Select ENSP00000370023.3:p.Gln763=
ENST00000492433.2:c.2376G= (HADHA) ENSP00000438039.2:p.Gln792=
ENST00000643057.1:c.*2267G= (HADHA) ENSP00000493761.1:n.*2267G=
ENST00000643063.1:c.*1335G= (HADHA) ENSP00000495353.1:n.*1335G=
ENST00000643233.1:c.*2180G= (HADHA) ENSP00000493880.1:n.*2180G=
ENST00000644428.1:c.*913G= (HADHA) ENSP00000495560.1:n.*913G=
ENST00000645274.1:c.2184G= (HADHA) ENSP00000493996.1:p.Gln728=
ENST00000646031.1:c.1648G= (HADHA)
ENST00000646483.1:c.2155G= (HADHA) ENSP00000496185.1:n.2155G=
ENST00000380649.7:c.2289G= (HADHA) ENSP00000370023.3:p.Gln763=
NM_000182.4:c.2289G= (HADHA) NP_000173.2:p.Gln763=
XM_011532567.1:c.1683+3938C= (GAREM2) XP_011530869.1:n.1683+3938C=
XM_011532567.3:c.1683+3938C= (GAREM2) XP_011530869.1:n.1683+3938C=
NM_000182.5:c.2289G= (HADHA) MANE Select NP_000173.2:p.Gln763=