Canonical Allele Identifier: CA5730954
Gene: ACADSB HGNC NCBI

Linked Data

ClinVar Variation Id: 299087
ClinVar RCV Id: RCV000375544
dbSNP Id: rs148640214

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123053119A>C , CM000672.2:g.123053119A>C GRCh38
NC_000010.10:g.124812635A>C , CM000672.1:g.124812635A>C GRCh37
NC_000010.9:g.124802625A>C NCBI36
NG_008003.1:g.49207A>C , LRG_451:g.49207A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.1187A>C MANE Select ENSP00000357873.3:p.Lys396Thr
ENST00000358776.6:c.1187A>C ENSP00000357873.3:p.Lys396Thr
ENST00000368869.8:c.881A>C ENSP00000357862.4:p.Lys294Thr
ENST00000541070.1:n.359A>C
NM_001609.3:c.1187A>C , LRG_451t1:c.1187A>C NP_001600.1:p.Lys396Thr
NM_001330174.1:c.881A>C NP_001317103.1:p.Lys294Thr
NM_001330174.2:c.881A>C NP_001317103.1:p.Lys294Thr
NM_001609.4:c.1187A>C MANE Select NP_001600.1:p.Lys396Thr
NM_001330174.3:c.881A>C NP_001317103.1:p.Lys294Thr