Canonical Allele Identifier: CA312209
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 3826
dbSNP Id: rs61732144

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737094C>T , CM000674.2:g.120737094C>T GRCh38
NC_000012.11:g.121174897C>T , CM000674.1:g.121174897C>T GRCh37
NC_000012.10:g.119659280C>T NCBI36
NG_007991.1:g.16327C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.319C>T MANE Select ENSP00000242592.4:p.Arg107Cys
ENST00000242592.8:c.319C>T ENSP00000242592.4:p.Arg107Cys
ENST00000411593.2:c.319C>T ENSP00000401045.2:p.Arg107Cys
ENST00000539690.1:n.431C>T
NM_000017.3:c.319C>T NP_000008.1:p.Arg107Cys
NM_001302554.1:c.319C>T NP_001289483.1:p.Arg107Cys
NM_000017.4:c.319C>T MANE Select NP_000008.1:p.Arg107Cys
NM_001302554.2:c.319C>T NP_001289483.1:p.Arg107Cys