Canonical Allele Identifier: CA16040869
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370251
ClinVar RCV Id: RCV000409142
dbSNP Id: rs1057516350

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191481A>G , CM000664.2:g.26191481A>G GRCh38
NC_000002.11:g.26414350A>G , CM000664.1:g.26414350A>G GRCh37
NC_000002.10:g.26267854A>G NCBI36
NG_007121.1:g.58140T>C

Transcript Alleles

HGVS Amino-acid change
NM_000182.4:c.2146+2T>C (HADHA) VV NP_000173.2:p.=
XM_011532567.1:c.1683+4166A>G (GAREM2) XP_011530869.1:p.=
XM_011532567.3:c.1683+4166A>G (GAREM2)
ENST00000380649.7:c.2146+2T>C ENSP00000370023.3:p.=
ENST00000492433.1:n.606T>C ENSP00000438039.1:p.Gly202=