Canonical Allele Identifier: CA1239700693
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191162C= , CM000664.2:g.26191162C= GRCh38
NC_000002.11:g.26414031C= , CM000664.1:g.26414031C= GRCh37
NC_000002.10:g.26267535C= NCBI36
NG_007121.1:g.58459G=
NG_007121.2:g.58460G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.*88G= (HADHA) MANE Select ENSP00000370023.3:n.*88G=
ENST00000492433.2:c.*88G= (HADHA) ENSP00000438039.2:n.*88G=
ENST00000643057.1:c.*2358G= (HADHA) ENSP00000493761.1:n.*2358G=
ENST00000643063.1:c.*1426G= (HADHA) ENSP00000495353.1:n.*1426G=
ENST00000643233.1:c.*2271G= (HADHA) ENSP00000493880.1:n.*2271G=
ENST00000644428.1:c.*1004G= (HADHA) ENSP00000495560.1:n.*1004G=
ENST00000645274.1:c.*88G= (HADHA) ENSP00000493996.1:n.*88G=
ENST00000646031.1:c.1739G= (HADHA)
ENST00000380649.7:c.*88G= (HADHA) ENSP00000370023.3:n.*88G=
NM_000182.4:c.*88G= (HADHA) NP_000173.2:n.*88G=
XM_011532567.1:c.1683+3847C= (GAREM2) XP_011530869.1:n.1683+3847C=
XM_011532567.3:c.1683+3847C= (GAREM2) XP_011530869.1:n.1683+3847C=
NM_000182.5:c.*88G= (HADHA) MANE Select NP_000173.2:n.*88G=