Canonical Allele Identifier: CA378615989
Gene: ACADSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034461C>T , CM000672.2:g.123034461C>T GRCh38
NC_000010.10:g.124793977C>T , CM000672.1:g.124793977C>T GRCh37
NC_000010.9:g.124783967C>T NCBI36
NG_008003.1:g.30549C>T , LRG_451:g.30549C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.148C>T MANE Select ENSP00000357873.3:p.His50Tyr
ENST00000358776.6:c.148C>T ENSP00000357873.3:p.His50Tyr
ENST00000368869.8:c.-58C>T ENSP00000357862.4:n.-58C>T
ENST00000411816.2:n.165C>T
NM_001609.3:c.148C>T , LRG_451t1:c.148C>T NP_001600.1:p.His50Tyr
NM_001330174.1:c.-58C>T NP_001317103.1:n.-58C>T
NM_001330174.2:c.-58C>T NP_001317103.1:n.-58C>T
NM_001609.4:c.148C>T MANE Select NP_001600.1:p.His50Tyr
NM_001330174.3:c.-58C>T NP_001317103.1:n.-58C>T