Canonical Allele Identifier: CA346111713
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2080602
ClinVar RCV Id: RCV003002050
dbSNP Id: rs1669492430
gnomAD v3: 2-26191357-T-C
gnomAD v4: 2-26191357-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191357T>C , CM000664.2:g.26191357T>C GRCh38
NC_000002.11:g.26414226T>C , CM000664.1:g.26414226T>C GRCh37
NC_000002.10:g.26267730T>C NCBI36
NG_007121.1:g.58264A>G
NG_007121.2:g.58265A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2185A>G (HADHA) MANE Select ENSP00000370023.3:p.Ile729Val
ENST00000492433.2:c.2272A>G (HADHA) ENSP00000438039.2:p.Ile758Val
ENST00000643057.1:c.*2163A>G (HADHA) ENSP00000493761.1:n.*2163A>G
ENST00000643063.1:c.*1231A>G (HADHA) ENSP00000495353.1:n.*1231A>G
ENST00000643233.1:c.*2076A>G (HADHA) ENSP00000493880.1:n.*2076A>G
ENST00000644428.1:c.*809A>G (HADHA) ENSP00000495560.1:n.*809A>G
ENST00000645274.1:c.2080A>G (HADHA) ENSP00000493996.1:p.Ile694Val
ENST00000646031.1:c.1544A>G (HADHA)
ENST00000646483.1:c.2051A>G (HADHA) ENSP00000496185.1:n.2051A>G
ENST00000380649.7:c.2185A>G (HADHA) ENSP00000370023.3:p.Ile729Val
ENST00000492433.1:c.730A>G (HADHA) ENSP00000438039.1:p.Ile244Val
NM_000182.4:c.2185A>G (HADHA) NP_000173.2:p.Ile729Val
XM_011532567.1:c.1683+4042T>C (GAREM2) XP_011530869.1:n.1683+4042T>C
XM_011532567.3:c.1683+4042T>C (GAREM2) XP_011530869.1:n.1683+4042T>C
NM_000182.5:c.2185A>G (HADHA) MANE Select NP_000173.2:p.Ile729Val