Canonical Allele Identifier: CA378615606
Gene: ACADSB HGNC NCBI

Linked Data

dbSNP Id: rs1431075945

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034371C>G , CM000672.2:g.123034371C>G GRCh38
NC_000010.10:g.124793887C>G , CM000672.1:g.124793887C>G GRCh37
NC_000010.9:g.124783877C>G NCBI36
NG_008003.1:g.30459C>G , LRG_451:g.30459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.58C>G MANE Select ENSP00000357873.3:p.Leu20Val
ENST00000358776.6:c.58C>G ENSP00000357873.3:p.Leu20Val
ENST00000368869.8:c.-148C>G ENSP00000357862.4:n.-148C>G
ENST00000411816.2:n.75C>G
NM_001609.3:c.58C>G , LRG_451t1:c.58C>G NP_001600.1:p.Leu20Val
NM_001330174.1:c.-148C>G NP_001317103.1:n.-148C>G
NM_001330174.2:c.-148C>G NP_001317103.1:n.-148C>G
NM_001609.4:c.58C>G MANE Select NP_001600.1:p.Leu20Val
NM_001330174.3:c.-148C>G NP_001317103.1:n.-148C>G