Canonical Allele Identifier: CA346112552
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 522963
ClinVar RCV Id: RCV000626160
dbSNP Id: rs138966725
gnomAD v3: 2-26191498-G-A
gnomAD v4: 2-26191498-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191498G>A , CM000664.2:g.26191498G>A GRCh38
NC_000002.11:g.26414367G>A , CM000664.1:g.26414367G>A GRCh37
NC_000002.10:g.26267871G>A NCBI36
NG_007121.1:g.58123C>T
NG_007121.2:g.58124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2131C>T (HADHA) MANE Select ENSP00000370023.3:p.Pro711Ser
ENST00000492433.2:c.2131C>T (HADHA) ENSP00000438039.2:p.Pro711Ser
ENST00000643057.1:c.*2022C>T (HADHA) ENSP00000493761.1:n.*2022C>T
ENST00000643063.1:c.*1177C>T (HADHA) ENSP00000495353.1:n.*1177C>T
ENST00000643233.1:c.*2022C>T (HADHA) ENSP00000493880.1:n.*2022C>T
ENST00000644428.1:c.*755C>T (HADHA) ENSP00000495560.1:n.*755C>T
ENST00000645274.1:c.2026C>T (HADHA) ENSP00000493996.1:p.Pro676Ser
ENST00000646031.1:c.1490C>T (HADHA)
ENST00000646483.1:c.1997C>T (HADHA) ENSP00000496185.1:n.1997C>T
ENST00000380649.7:c.2131C>T (HADHA) ENSP00000370023.3:p.Pro711Ser
ENST00000492433.1:c.589C>T (HADHA) ENSP00000438039.1:p.Pro197Ser
NM_000182.4:c.2131C>T (HADHA) NP_000173.2:p.Pro711Ser
XM_011532567.1:c.1683+4183G>A (GAREM2) XP_011530869.1:n.1683+4183G>A
XM_011532567.3:c.1683+4183G>A (GAREM2) XP_011530869.1:n.1683+4183G>A
NM_000182.5:c.2131C>T (HADHA) MANE Select NP_000173.2:p.Pro711Ser