Canonical Allele Identifier: CA1239700737
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191234G= , CM000664.2:g.26191234G= GRCh38
NC_000002.11:g.26414103G= , CM000664.1:g.26414103G= GRCh37
NC_000002.10:g.26267607G= NCBI36
NG_007121.1:g.58387C=
NG_007121.2:g.58388C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.*16C= (HADHA) MANE Select ENSP00000370023.3:n.*16C=
ENST00000492433.2:c.*16C= (HADHA) ENSP00000438039.2:n.*16C=
ENST00000643057.1:c.*2286C= (HADHA) ENSP00000493761.1:n.*2286C=
ENST00000643063.1:c.*1354C= (HADHA) ENSP00000495353.1:n.*1354C=
ENST00000643233.1:c.*2199C= (HADHA) ENSP00000493880.1:n.*2199C=
ENST00000644428.1:c.*932C= (HADHA) ENSP00000495560.1:n.*932C=
ENST00000645274.1:c.*16C= (HADHA) ENSP00000493996.1:n.*16C=
ENST00000646031.1:c.1667C= (HADHA)
ENST00000380649.7:c.*16C= (HADHA) ENSP00000370023.3:n.*16C=
NM_000182.4:c.*16C= (HADHA) NP_000173.2:n.*16C=
XM_011532567.1:c.1683+3919G= (GAREM2) XP_011530869.1:n.1683+3919G=
XM_011532567.3:c.1683+3919G= (GAREM2) XP_011530869.1:n.1683+3919G=
NM_000182.5:c.*16C= (HADHA) MANE Select NP_000173.2:n.*16C=