Canonical Allele Identifier: CA6830770
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 283771
dbSNP Id: rs202193021

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120727126C>G , CM000674.2:g.120727126C>G GRCh38
NC_000012.11:g.121164929C>G , CM000674.1:g.121164929C>G GRCh37
NC_000012.10:g.119649312C>G NCBI36
NG_007991.1:g.6359C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.147C>G MANE Select ENSP00000242592.4:p.Ala49=
ENST00000242592.8:c.147C>G ENSP00000242592.4:p.Ala49=
ENST00000411593.2:c.147C>G ENSP00000401045.2:p.Ala49=
ENST00000539690.1:n.259C>G
NM_000017.3:c.147C>G NP_000008.1:p.Ala49=
NM_001302554.1:c.147C>G NP_001289483.1:p.Ala49=
NM_000017.4:c.147C>G MANE Select NP_000008.1:p.Ala49=
NM_001302554.2:c.147C>G NP_001289483.1:p.Ala49=