Canonical Allele Identifier: CA1239700672
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191124G= , CM000664.2:g.26191124G= GRCh38
NC_000002.11:g.26413993G= , CM000664.1:g.26413993G= GRCh37
NC_000002.10:g.26267497G= NCBI36
NG_007121.1:g.58497C=
NG_007121.2:g.58498C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.*126C= (HADHA) MANE Select ENSP00000370023.3:n.*126C=
ENST00000492433.2:c.*126C= (HADHA) ENSP00000438039.2:n.*126C=
ENST00000643057.1:c.*2396C= (HADHA) ENSP00000493761.1:n.*2396C=
ENST00000643063.1:c.*1464C= (HADHA) ENSP00000495353.1:n.*1464C=
ENST00000643233.1:c.*2309C= (HADHA) ENSP00000493880.1:n.*2309C=
ENST00000644428.1:c.*1042C= (HADHA) ENSP00000495560.1:n.*1042C=
ENST00000645274.1:c.*126C= (HADHA) ENSP00000493996.1:n.*126C=
ENST00000646031.1:c.1777C= (HADHA)
ENST00000380649.7:c.*126C= (HADHA) ENSP00000370023.3:n.*126C=
NM_000182.4:c.*126C= (HADHA) NP_000173.2:n.*126C=
XM_011532567.1:c.1683+3809G= (GAREM2) XP_011530869.1:n.1683+3809G=
XM_011532567.3:c.1683+3809G= (GAREM2) XP_011530869.1:n.1683+3809G=
NM_000182.5:c.*126C= (HADHA) MANE Select NP_000173.2:n.*126C=