Canonical Allele Identifier: CA203873
Gene: ACADSB HGNC NCBI

Linked Data

ClinVar Variation Id: 203367
dbSNP Id: rs147936696

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123037848G>A , CM000672.2:g.123037848G>A GRCh38
NC_000010.10:g.124797364G>A , CM000672.1:g.124797364G>A GRCh37
NC_000010.9:g.124787354G>A NCBI36
NG_008003.1:g.33936G>A , LRG_451:g.33936G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.303+1G>A MANE Select ENSP00000357873.3:n.303+1G>A
ENST00000358776.6:c.303+1G>A ENSP00000357873.3:n.303+1G>A
ENST00000368869.8:c.-3-2618G>A ENSP00000357862.4:n.-3-2618G>A
ENST00000411816.2:n.320+1G>A
NM_001609.3:c.303+1G>A , LRG_451t1:c.303+1G>A NP_001600.1:n.303+1G>A
NM_001330174.1:c.-3-2618G>A NP_001317103.1:n.-3-2618G>A
NM_001330174.2:c.-3-2618G>A NP_001317103.1:n.-3-2618G>A
NM_001609.4:c.303+1G>A MANE Select NP_001600.1:n.303+1G>A
NM_001330174.3:c.-3-2618G>A NP_001317103.1:n.-3-2618G>A