Canonical Allele Identifier: CA378618278
Gene: ACADSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123040608T>A , CM000672.2:g.123040608T>A GRCh38
NC_000010.10:g.124800124T>A , CM000672.1:g.124800124T>A GRCh37
NC_000010.9:g.124790114T>A NCBI36
NG_008003.1:g.36696T>A , LRG_451:g.36696T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.446T>A MANE Select ENSP00000357873.3:p.Leu149Gln
ENST00000358776.6:c.446T>A ENSP00000357873.3:p.Leu149Gln
ENST00000368869.8:c.140T>A ENSP00000357862.4:p.Leu47Gln
ENST00000411816.2:n.463T>A
NM_001609.3:c.446T>A , LRG_451t1:c.446T>A NP_001600.1:p.Leu149Gln
NM_001330174.1:c.140T>A NP_001317103.1:p.Leu47Gln
NM_001330174.2:c.140T>A NP_001317103.1:p.Leu47Gln
NM_001609.4:c.446T>A MANE Select NP_001600.1:p.Leu149Gln
NM_001330174.3:c.140T>A NP_001317103.1:p.Leu47Gln