Canonical Allele Identifier: CA244521505
Gene: ACADS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 427168
ClinVar RCV Id: RCV000489562
dbSNP Id: rs1001298373

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737077C>T , CM000674.2:g.120737077C>T GRCh38
NC_000012.11:g.121174880C>T , CM000674.1:g.121174880C>T GRCh37
NC_000012.10:g.119659263C>T NCBI36
NG_007991.1:g.16310C>T

Transcript Alleles

HGVS Amino-acid change
NM_000017.3:c.302C>T VV NP_000008.1:p.Ala101Val
NM_001302554.1:c.302C>T VV NP_001289483.1:p.Ala101Val
NM_000017.4:c.302C>T VV MANE Preferred NP_000008.1:p.Ala101Val
ENST00000242592.8:c.302C>T ENSP00000242592.4:p.Ala101Val
ENST00000411593.2:c.302C>T ENSP00000401045.2:p.Ala101Val
ENST00000539690.1:n.414C>T