Canonical Allele Identifier: CA2658212273
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2942760
ClinVar RCV Id: RCV003807926
gnomAD v4: 2-26194552-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26194552C>G , CM000664.2:g.26194552C>G GRCh38
NC_000002.11:g.26417421C>G , CM000664.1:g.26417421C>G GRCh37
NC_000002.10:g.26270925C>G NCBI36
NG_007121.1:g.55069G>C
NG_007121.2:g.55070G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1689+18G>C (HADHA) MANE Select ENSP00000370023.3:n.1689+18G>C
ENST00000492433.2:c.1689+18G>C (HADHA) ENSP00000438039.2:n.1689+18G>C
ENST00000643057.1:c.*1580+18G>C (HADHA) ENSP00000493761.1:n.*1580+18G>C
ENST00000643063.1:c.*735+18G>C (HADHA) ENSP00000495353.1:n.*735+18G>C
ENST00000643233.1:c.*1580+18G>C (HADHA) ENSP00000493880.1:n.*1580+18G>C
ENST00000644428.1:c.*313+18G>C (HADHA) ENSP00000495560.1:n.*313+18G>C
ENST00000645274.1:c.1584+18G>C (HADHA) ENSP00000493996.1:n.1584+18G>C
ENST00000646031.1:c.1048+18G>C (HADHA)
ENST00000646483.1:c.1555+18G>C (HADHA) ENSP00000496185.1:n.1555+18G>C
ENST00000380649.7:c.1689+18G>C (HADHA) ENSP00000370023.3:n.1689+18G>C
ENST00000492433.1:c.147+18G>C (HADHA) ENSP00000438039.1:n.147+18G>C
NM_000182.4:c.1689+18G>C (HADHA) NP_000173.2:n.1689+18G>C
XM_011532567.1:c.1683+7237C>G (GAREM2) XP_011530869.1:n.1683+7237C>G
XM_011532567.3:c.1683+7237C>G (GAREM2) XP_011530869.1:n.1683+7237C>G
NM_000182.5:c.1689+18G>C (HADHA) MANE Select NP_000173.2:n.1689+18G>C