Canonical Allele Identifier: CA386601458
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738838G>C , CM000674.2:g.120738838G>C GRCh38
NC_000012.11:g.121176641G>C , CM000674.1:g.121176641G>C GRCh37
NC_000012.10:g.119661024G>C NCBI36
NG_007991.1:g.18071G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.952G>C MANE Select ENSP00000242592.4:p.Ala318Pro
ENST00000242592.8:c.952G>C ENSP00000242592.4:p.Ala318Pro
ENST00000411593.2:c.940G>C ENSP00000401045.2:p.Ala314Pro
NM_000017.3:c.952G>C NP_000008.1:p.Ala318Pro
NM_001302554.1:c.940G>C NP_001289483.1:p.Ala314Pro
NM_000017.4:c.952G>C MANE Select NP_000008.1:p.Ala318Pro
NM_001302554.2:c.940G>C NP_001289483.1:p.Ala314Pro