Canonical Allele Identifier: CA386601893
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120739363-C-A
MyVariant Identifiers: chr12:g.121177166C>A (hg19) chr12:g.120739363C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739363C>A , CM000674.2:g.120739363C>A GRCh38
NC_000012.11:g.121177166C>A , CM000674.1:g.121177166C>A GRCh37
NC_000012.10:g.119661549C>A NCBI36
NG_007991.1:g.18596C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1154C>A MANE Select ENSP00000242592.4:p.Ala385Asp
ENST00000242592.8:c.1154C>A ENSP00000242592.4:p.Ala385Asp
ENST00000411593.2:c.1142C>A ENSP00000401045.2:p.Ala381Asp
NM_000017.3:c.1154C>A NP_000008.1:p.Ala385Asp
NM_001302554.1:c.1142C>A NP_001289483.1:p.Ala381Asp
NM_000017.4:c.1154C>A MANE Select NP_000008.1:p.Ala385Asp
NM_001302554.2:c.1142C>A NP_001289483.1:p.Ala381Asp
Search 100 bp 5'
Search 100 bp 3'