Canonical Allele Identifier: CA1239700718
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191203C= , CM000664.2:g.26191203C= GRCh38
NC_000002.11:g.26414072C= , CM000664.1:g.26414072C= GRCh37
NC_000002.10:g.26267576C= NCBI36
NG_007121.1:g.58418G=
NG_007121.2:g.58419G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.*47G= (HADHA) MANE Select ENSP00000370023.3:n.*47G=
ENST00000492433.2:c.*47G= (HADHA) ENSP00000438039.2:n.*47G=
ENST00000643057.1:c.*2317G= (HADHA) ENSP00000493761.1:n.*2317G=
ENST00000643063.1:c.*1385G= (HADHA) ENSP00000495353.1:n.*1385G=
ENST00000643233.1:c.*2230G= (HADHA) ENSP00000493880.1:n.*2230G=
ENST00000644428.1:c.*963G= (HADHA) ENSP00000495560.1:n.*963G=
ENST00000645274.1:c.*47G= (HADHA) ENSP00000493996.1:n.*47G=
ENST00000646031.1:c.1698G= (HADHA)
ENST00000380649.7:c.*47G= (HADHA) ENSP00000370023.3:n.*47G=
NM_000182.4:c.*47G= (HADHA) NP_000173.2:n.*47G=
XM_011532567.1:c.1683+3888C= (GAREM2) XP_011530869.1:n.1683+3888C=
XM_011532567.3:c.1683+3888C= (GAREM2) XP_011530869.1:n.1683+3888C=
NM_000182.5:c.*47G= (HADHA) MANE Select NP_000173.2:n.*47G=