Canonical Allele Identifier: CA386601461
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738839C>T , CM000674.2:g.120738839C>T GRCh38
NC_000012.11:g.121176642C>T , CM000674.1:g.121176642C>T GRCh37
NC_000012.10:g.119661025C>T NCBI36
NG_007991.1:g.18072C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.953C>T MANE Select ENSP00000242592.4:p.Ala318Val
ENST00000242592.8:c.953C>T ENSP00000242592.4:p.Ala318Val
ENST00000411593.2:c.941C>T ENSP00000401045.2:p.Ala314Val
NM_000017.3:c.953C>T NP_000008.1:p.Ala318Val
NM_001302554.1:c.941C>T NP_001289483.1:p.Ala314Val
NM_000017.4:c.953C>T MANE Select NP_000008.1:p.Ala318Val
NM_001302554.2:c.941C>T NP_001289483.1:p.Ala314Val