Canonical Allele Identifier: CA16040875
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 370401
ClinVar RCV Id: RCV000410271
dbSNP Id: rs1057516461
gnomAD v2: 2-26424173-T-A
gnomAD v4: 2-26201304-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26201304T>A , CM000664.2:g.26201304T>A GRCh38
NC_000002.11:g.26424173T>A , CM000664.1:g.26424173T>A GRCh37
NC_000002.10:g.26277677T>A NCBI36
NG_007121.1:g.48317A>T
NG_007121.2:g.48318A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1237A>T (HADHA) MANE Select ENSP00000370023.3:p.Lys413Ter
ENST00000492433.2:c.1237A>T (HADHA) ENSP00000438039.2:p.Lys413Ter
ENST00000643057.1:c.*1128A>T (HADHA) ENSP00000493761.1:n.*1128A>T
ENST00000643063.1:c.*283A>T (HADHA) ENSP00000495353.1:n.*283A>T
ENST00000643233.1:c.*1128A>T (HADHA) ENSP00000493880.1:n.*1128A>T
ENST00000644428.1:c.1237A>T (HADHA) ENSP00000495560.1:p.Lys413Ter
ENST00000645274.1:c.1132A>T (HADHA) ENSP00000493996.1:p.Lys378Ter
ENST00000646031.1:c.596A>T (HADHA)
ENST00000646483.1:c.1103A>T (HADHA) ENSP00000496185.1:n.1103A>T
ENST00000380649.7:c.1237A>T (HADHA) ENSP00000370023.3:p.Lys413Ter
NM_000182.4:c.1237A>T (HADHA) NP_000173.2:p.Lys413Ter
XM_011532567.1:c.1684-929T>A (GAREM2) XP_011530869.1:n.1684-929T>A
XM_011532567.3:c.1684-929T>A (GAREM2) XP_011530869.1:n.1684-929T>A
NM_000182.5:c.1237A>T (HADHA) MANE Select NP_000173.2:p.Lys413Ter