Canonical Allele Identifier: CA1559379
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

dbSNP Id: rs779726875
gnomAD v2: 2-26414405-G-A
gnomAD v4: 2-26191536-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191536G>A , CM000664.2:g.26191536G>A GRCh38
NC_000002.11:g.26414405G>A , CM000664.1:g.26414405G>A GRCh37
NC_000002.10:g.26267909G>A NCBI36
NG_007121.1:g.58085C>T
NG_007121.2:g.58086C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2093C>T (HADHA) MANE Select ENSP00000370023.3:p.Ala698Val
ENST00000492433.2:c.2093C>T (HADHA) ENSP00000438039.2:p.Ala698Val
ENST00000643057.1:c.*1984C>T (HADHA) ENSP00000493761.1:n.*1984C>T
ENST00000643063.1:c.*1139C>T (HADHA) ENSP00000495353.1:n.*1139C>T
ENST00000643233.1:c.*1984C>T (HADHA) ENSP00000493880.1:n.*1984C>T
ENST00000644428.1:c.*717C>T (HADHA) ENSP00000495560.1:n.*717C>T
ENST00000645274.1:c.1988C>T (HADHA) ENSP00000493996.1:p.Ala663Val
ENST00000646031.1:c.1452C>T (HADHA)
ENST00000646483.1:c.1959C>T (HADHA) ENSP00000496185.1:n.1959C>T
ENST00000380649.7:c.2093C>T (HADHA) ENSP00000370023.3:p.Ala698Val
ENST00000492433.1:c.551C>T (HADHA) ENSP00000438039.1:p.Ala184Val
NM_000182.4:c.2093C>T (HADHA) NP_000173.2:p.Ala698Val
XM_011532567.1:c.1683+4221G>A (GAREM2) XP_011530869.1:n.1683+4221G>A
XM_011532567.3:c.1683+4221G>A (GAREM2) XP_011530869.1:n.1683+4221G>A
NM_000182.5:c.2093C>T (HADHA) MANE Select NP_000173.2:p.Ala698Val