Canonical Allele Identifier: CA16041564
Gene: ACADS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370534
ClinVar RCV Id: RCV000409068
dbSNP Id: rs1057516566

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120736985G>A , CM000674.2:g.120736985G>A GRCh38
NC_000012.11:g.121174788G>A , CM000674.1:g.121174788G>A GRCh37
NC_000012.10:g.119659171G>A NCBI36
NG_007991.1:g.16218G>A

Transcript Alleles

HGVS Amino-acid change
NM_000017.3:c.211-1G>A VV NP_000008.1:p.=
NM_001302554.1:c.211-1G>A VV NP_001289483.1:p.=
ENST00000242592.8:c.211-1G>A ENSP00000242592.4:p.=
ENST00000411593.2:c.211-1G>A ENSP00000401045.2:p.=
ENST00000539690.1:n.323-1G>A