Canonical Allele Identifier: CA252888
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 3836
dbSNP Id: rs28941773

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739168C>T , CM000674.2:g.120739168C>T GRCh38
NC_000012.11:g.121176971C>T , CM000674.1:g.121176971C>T GRCh37
NC_000012.10:g.119661354C>T NCBI36
NG_007991.1:g.18401C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1058C>T MANE Select ENSP00000242592.4:p.Ser353Leu
ENST00000242592.8:c.1058C>T ENSP00000242592.4:p.Ser353Leu
ENST00000411593.2:c.1046C>T ENSP00000401045.2:p.Ser349Leu
NM_000017.3:c.1058C>T NP_000008.1:p.Ser353Leu
NM_001302554.1:c.1046C>T NP_001289483.1:p.Ser349Leu
NM_000017.4:c.1058C>T MANE Select NP_000008.1:p.Ser353Leu
NM_001302554.2:c.1046C>T NP_001289483.1:p.Ser349Leu