Canonical Allele Identifier: CA378616102
Gene: ACADSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123034488G>A , CM000672.2:g.123034488G>A GRCh38
NC_000010.10:g.124794004G>A , CM000672.1:g.124794004G>A GRCh37
NC_000010.9:g.124783994G>A NCBI36
NG_008003.1:g.30576G>A , LRG_451:g.30576G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.175G>A MANE Select ENSP00000357873.3:p.Asp59Asn
ENST00000358776.6:c.175G>A ENSP00000357873.3:p.Asp59Asn
ENST00000368869.8:c.-31G>A ENSP00000357862.4:n.-31G>A
ENST00000411816.2:n.192G>A
NM_001609.3:c.175G>A , LRG_451t1:c.175G>A NP_001600.1:p.Asp59Asn
NM_001330174.1:c.-31G>A NP_001317103.1:n.-31G>A
NM_001330174.2:c.-31G>A NP_001317103.1:n.-31G>A
NM_001609.4:c.175G>A MANE Select NP_001600.1:p.Asp59Asn
NM_001330174.3:c.-31G>A NP_001317103.1:n.-31G>A