Canonical Allele Identifier: CA120179
Gene: ACADSB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9203
ClinVar RCV Id: RCV000009781
dbSNP Id: rs188094280

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123053091G>A , CM000672.2:g.123053091G>A GRCh38
NC_000010.10:g.124812607G>A , CM000672.1:g.124812607G>A GRCh37
NC_000010.9:g.124802597G>A NCBI36
NG_008003.1:g.49179G>A , LRG_451:g.49179G>A

Transcript Alleles

HGVS Amino-acid change
NM_001609.3:c.1159G>A , LRG_451t1:c.1159G>A NP_001600.1:p.Glu387Lys
NM_001330174.1:c.853G>A VV NP_001317103.1:p.Glu285Lys
ENST00000358776.6:c.1159G>A ENSP00000357873.3:p.Glu387Lys
ENST00000368869.8:c.853G>A ENSP00000357862.4:p.Glu285Lys
ENST00000541070.1:n.331G>A