Canonical Allele Identifier: CA44384244
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

dbSNP Id: rs200315230
gnomAD v2: 2-26424140-A-G
gnomAD v3: 2-26201271-A-G
gnomAD v4: 2-26201271-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26201271A>G , CM000664.2:g.26201271A>G GRCh38
NC_000002.11:g.26424140A>G , CM000664.1:g.26424140A>G GRCh37
NC_000002.10:g.26277644A>G NCBI36
NG_007121.1:g.48350T>C
NG_007121.2:g.48351T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1270T>C (HADHA) MANE Select ENSP00000370023.3:p.Ser424Pro
ENST00000492433.2:c.1270T>C (HADHA) ENSP00000438039.2:p.Ser424Pro
ENST00000643057.1:c.*1161T>C (HADHA) ENSP00000493761.1:n.*1161T>C
ENST00000643063.1:c.*316T>C (HADHA) ENSP00000495353.1:n.*316T>C
ENST00000643233.1:c.*1161T>C (HADHA) ENSP00000493880.1:n.*1161T>C
ENST00000644428.1:c.1270T>C (HADHA) ENSP00000495560.1:p.Ser424Pro
ENST00000645274.1:c.1165T>C (HADHA) ENSP00000493996.1:p.Ser389Pro
ENST00000646031.1:c.629T>C (HADHA)
ENST00000646483.1:c.1136T>C (HADHA) ENSP00000496185.1:n.1136T>C
ENST00000380649.7:c.1270T>C (HADHA) ENSP00000370023.3:p.Ser424Pro
NM_000182.4:c.1270T>C (HADHA) NP_000173.2:p.Ser424Pro
XM_011532567.1:c.1684-962A>G (GAREM2) XP_011530869.1:n.1684-962A>G
XM_011532567.3:c.1684-962A>G (GAREM2) XP_011530869.1:n.1684-962A>G
NM_000182.5:c.1270T>C (HADHA) MANE Select NP_000173.2:p.Ser424Pro