Canonical Allele Identifier: CA1559336
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 335373
dbSNP Id: rs368976628
gnomAD v2: 2-26414272-G-C
gnomAD v3: 2-26191403-G-C
gnomAD v4: 2-26191403-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191403G>C , CM000664.2:g.26191403G>C GRCh38
NC_000002.11:g.26414272G>C , CM000664.1:g.26414272G>C GRCh37
NC_000002.10:g.26267776G>C NCBI36
NG_007121.1:g.58218C>G
NG_007121.2:g.58219C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2147-8C>G (HADHA) MANE Select ENSP00000370023.3:n.2147-8C>G
ENST00000492433.2:c.2226C>G (HADHA) ENSP00000438039.2:p.Leu742=
ENST00000643057.1:c.*2117C>G (HADHA) ENSP00000493761.1:n.*2117C>G
ENST00000643063.1:c.*1193-8C>G (HADHA) ENSP00000495353.1:n.*1193-8C>G
ENST00000643233.1:c.*2038-8C>G (HADHA) ENSP00000493880.1:n.*2038-8C>G
ENST00000644428.1:c.*771-8C>G (HADHA) ENSP00000495560.1:n.*771-8C>G
ENST00000645274.1:c.2042-8C>G (HADHA) ENSP00000493996.1:n.2042-8C>G
ENST00000646031.1:c.1506-8C>G (HADHA)
ENST00000646483.1:c.2013-8C>G (HADHA) ENSP00000496185.1:n.2013-8C>G
ENST00000380649.7:c.2147-8C>G (HADHA) ENSP00000370023.3:n.2147-8C>G
ENST00000492433.1:c.684C>G (HADHA) ENSP00000438039.1:p.Leu228=
NM_000182.4:c.2147-8C>G (HADHA) NP_000173.2:n.2147-8C>G
XM_011532567.1:c.1683+4088G>C (GAREM2) XP_011530869.1:n.1683+4088G>C
XM_011532567.3:c.1683+4088G>C (GAREM2) XP_011530869.1:n.1683+4088G>C
NM_000182.5:c.2147-8C>G (HADHA) MANE Select NP_000173.2:n.2147-8C>G