Canonical Allele Identifier: CA119870
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 100085
dbSNP Id: rs137852769
gnomAD v2: 2-26418053-C-G
gnomAD v3: 2-26195184-C-G
gnomAD v4: 2-26195184-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26195184C>G , CM000664.2:g.26195184C>G GRCh38
NC_000002.11:g.26418053C>G , CM000664.1:g.26418053C>G GRCh37
NC_000002.10:g.26271557C>G NCBI36
NG_007121.1:g.54437G>C
NG_007121.2:g.54438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1528G>C (HADHA) MANE Select ENSP00000370023.3:p.Glu510Gln
ENST00000492433.2:c.1528G>C (HADHA) ENSP00000438039.2:p.Glu510Gln
ENST00000643057.1:c.*1419G>C (HADHA) ENSP00000493761.1:n.*1419G>C
ENST00000643063.1:c.*574G>C (HADHA) ENSP00000495353.1:n.*574G>C
ENST00000643233.1:c.*1419G>C (HADHA) ENSP00000493880.1:n.*1419G>C
ENST00000644428.1:c.*152G>C (HADHA) ENSP00000495560.1:n.*152G>C
ENST00000645274.1:c.1423G>C (HADHA) ENSP00000493996.1:p.Glu475Gln
ENST00000646031.1:c.887G>C (HADHA)
ENST00000646483.1:c.1394G>C (HADHA) ENSP00000496185.1:n.1394G>C
ENST00000380649.7:c.1528G>C (HADHA) ENSP00000370023.3:p.Glu510Gln
NM_000182.4:c.1528G>C (HADHA) NP_000173.2:p.Glu510Gln
XM_011532567.1:c.1684-7049C>G (GAREM2) XP_011530869.1:n.1684-7049C>G
XM_011532567.3:c.1684-7049C>G (GAREM2) XP_011530869.1:n.1684-7049C>G
NM_000182.5:c.1528G>C (HADHA) MANE Select NP_000173.2:p.Glu510Gln