Canonical Allele Identifier: CA346111407
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191281G>C , CM000664.2:g.26191281G>C GRCh38
NC_000002.11:g.26414150G>C , CM000664.1:g.26414150G>C GRCh37
NC_000002.10:g.26267654G>C NCBI36
NG_007121.1:g.58340C>G
NG_007121.2:g.58341C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2261C>G (HADHA) MANE Select ENSP00000370023.3:p.Ala754Gly
ENST00000492433.2:c.2348C>G (HADHA) ENSP00000438039.2:p.Ala783Gly
ENST00000643057.1:c.*2239C>G (HADHA) ENSP00000493761.1:n.*2239C>G
ENST00000643063.1:c.*1307C>G (HADHA) ENSP00000495353.1:n.*1307C>G
ENST00000643233.1:c.*2152C>G (HADHA) ENSP00000493880.1:n.*2152C>G
ENST00000644428.1:c.*885C>G (HADHA) ENSP00000495560.1:n.*885C>G
ENST00000645274.1:c.2156C>G (HADHA) ENSP00000493996.1:p.Ala719Gly
ENST00000646031.1:c.1620C>G (HADHA)
ENST00000646483.1:c.2127C>G (HADHA) ENSP00000496185.1:n.2127C>G
ENST00000380649.7:c.2261C>G (HADHA) ENSP00000370023.3:p.Ala754Gly
NM_000182.4:c.2261C>G (HADHA) NP_000173.2:p.Ala754Gly
XM_011532567.1:c.1683+3966G>C (GAREM2) XP_011530869.1:n.1683+3966G>C
XM_011532567.3:c.1683+3966G>C (GAREM2) XP_011530869.1:n.1683+3966G>C
NM_000182.5:c.2261C>G (HADHA) MANE Select NP_000173.2:p.Ala754Gly