Canonical Allele Identifier: CA386601852
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739342C>A , CM000674.2:g.120739342C>A GRCh38
NC_000012.11:g.121177145C>A , CM000674.1:g.121177145C>A GRCh37
NC_000012.10:g.119661528C>A NCBI36
NG_007991.1:g.18575C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1133C>A MANE Select ENSP00000242592.4:p.Ala378Glu
ENST00000242592.8:c.1133C>A ENSP00000242592.4:p.Ala378Glu
ENST00000411593.2:c.1121C>A ENSP00000401045.2:p.Ala374Glu
NM_000017.3:c.1133C>A NP_000008.1:p.Ala378Glu
NM_001302554.1:c.1121C>A NP_001289483.1:p.Ala374Glu
NM_000017.4:c.1133C>A MANE Select NP_000008.1:p.Ala378Glu
NM_001302554.2:c.1121C>A NP_001289483.1:p.Ala374Glu