Canonical Allele Identifier: CA912973554
Gene: ACADS HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121176636dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738833dup , CM000674.2:g.120738833dup GRCh38
NC_000012.11:g.121176636dup , CM000674.1:g.121176636dup GRCh37
NC_000012.10:g.119661019dup NCBI36
NG_007991.1:g.18066dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.947dup MANE Select ENSP00000242592.4:p.Asp316GlufsTer22
ENST00000242592.8:c.947dup ENSP00000242592.4:p.Asp316GlufsTer22
ENST00000411593.2:c.935dup ENSP00000401045.2:p.Asp312GlufsTer22
NM_000017.3:c.947dup NP_000008.1:p.Asp316GlufsTer22
NM_001302554.1:c.935dup NP_001289483.1:p.Asp312GlufsTer22
NM_000017.4:c.947dup MANE Select NP_000008.1:p.Asp316GlufsTer22
NM_001302554.2:c.935dup NP_001289483.1:p.Asp312GlufsTer22