Canonical Allele Identifier: CA378616228
Gene: ACADSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034510G>T , CM000672.2:g.123034510G>T GRCh38
NC_000010.10:g.124794026G>T , CM000672.1:g.124794026G>T GRCh37
NC_000010.9:g.124784016G>T NCBI36
NG_008003.1:g.30598G>T , LRG_451:g.30598G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.197G>T MANE Select ENSP00000357873.3:p.Ser66Ile
ENST00000358776.6:c.197G>T ENSP00000357873.3:p.Ser66Ile
ENST00000368869.8:c.-9G>T ENSP00000357862.4:n.-9G>T
ENST00000411816.2:n.214G>T
NM_001609.3:c.197G>T , LRG_451t1:c.197G>T NP_001600.1:p.Ser66Ile
NM_001330174.1:c.-9G>T NP_001317103.1:n.-9G>T
NM_001330174.2:c.-9G>T NP_001317103.1:n.-9G>T
NM_001609.4:c.197G>T MANE Select NP_001600.1:p.Ser66Ile
NM_001330174.3:c.-9G>T NP_001317103.1:n.-9G>T