Canonical Allele Identifier: CA386601786
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 529839
ClinVar RCV Id: RCV000635333
dbSNP Id: rs1433674196

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739311G>A , CM000674.2:g.120739311G>A GRCh38
NC_000012.11:g.121177114G>A , CM000674.1:g.121177114G>A GRCh37
NC_000012.10:g.119661497G>A NCBI36
NG_007991.1:g.18544G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1102G>A MANE Select ENSP00000242592.4:p.Gly368Ser
ENST00000242592.8:c.1102G>A ENSP00000242592.4:p.Gly368Ser
ENST00000411593.2:c.1090G>A ENSP00000401045.2:p.Gly364Ser
NM_000017.3:c.1102G>A NP_000008.1:p.Gly368Ser
NM_001302554.1:c.1090G>A NP_001289483.1:p.Gly364Ser
NM_000017.4:c.1102G>A MANE Select NP_000008.1:p.Gly368Ser
NM_001302554.2:c.1090G>A NP_001289483.1:p.Gly364Ser