Canonical Allele Identifier: CA378616232
Gene: ACADSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034511T>G , CM000672.2:g.123034511T>G GRCh38
NC_000010.10:g.124794027T>G , CM000672.1:g.124794027T>G GRCh37
NC_000010.9:g.124784017T>G NCBI36
NG_008003.1:g.30599T>G , LRG_451:g.30599T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.198T>G MANE Select ENSP00000357873.3:p.Ser66Arg
ENST00000358776.6:c.198T>G ENSP00000357873.3:p.Ser66Arg
ENST00000368869.8:c.-8T>G ENSP00000357862.4:n.-8T>G
ENST00000411816.2:n.215T>G
NM_001609.3:c.198T>G , LRG_451t1:c.198T>G NP_001600.1:p.Ser66Arg
NM_001330174.1:c.-8T>G NP_001317103.1:n.-8T>G
NM_001330174.2:c.-8T>G NP_001317103.1:n.-8T>G
NM_001609.4:c.198T>G MANE Select NP_001600.1:p.Ser66Arg
NM_001330174.3:c.-8T>G NP_001317103.1:n.-8T>G