Canonical Allele Identifier: CA425200863
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26197733G>A , CM000664.2:g.26197733G>A GRCh38
NC_000002.11:g.26420602G>A , CM000664.1:g.26420602G>A GRCh37
NC_000002.10:g.26274106G>A NCBI36
NG_007121.1:g.51888C>T
NG_007121.2:g.51889C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1437C>T (HADHA) MANE Select ENSP00000370023.3:p.Leu479=
ENST00000492433.2:c.1437C>T (HADHA) ENSP00000438039.2:p.Leu479=
ENST00000643057.1:c.*1328C>T (HADHA) ENSP00000493761.1:n.*1328C>T
ENST00000643063.1:c.*483C>T (HADHA) ENSP00000495353.1:n.*483C>T
ENST00000643233.1:c.*1328C>T (HADHA) ENSP00000493880.1:n.*1328C>T
ENST00000644428.1:c.*61C>T (HADHA) ENSP00000495560.1:n.*61C>T
ENST00000645274.1:c.1332C>T (HADHA) ENSP00000493996.1:p.Leu444=
ENST00000646031.1:c.796C>T (HADHA)
ENST00000646483.1:c.1303C>T (HADHA) ENSP00000496185.1:n.1303C>T
ENST00000380649.7:c.1437C>T (HADHA) ENSP00000370023.3:p.Leu479=
NM_000182.4:c.1437C>T (HADHA) NP_000173.2:p.Leu479=
XM_011532567.1:c.1684-4500G>A (GAREM2) XP_011530869.1:n.1684-4500G>A
XM_011532567.3:c.1684-4500G>A (GAREM2) XP_011530869.1:n.1684-4500G>A
NM_000182.5:c.1437C>T (HADHA) MANE Select NP_000173.2:p.Leu479=