Canonical Allele Identifier: CA482146930
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 2968272
ClinVar RCV Id: RCV003821398
dbSNP Id: rs1883582806
gnomAD v4: 12-120739379-C-T
MyVariant Identifiers: chr12:g.121177182C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739379C>T , CM000674.2:g.120739379C>T GRCh38
NC_000012.11:g.121177182C>T , CM000674.1:g.121177182C>T GRCh37
NC_000012.10:g.119661565C>T NCBI36
NG_007991.1:g.18612C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1170C>T MANE Select ENSP00000242592.4:p.Ile390=
ENST00000242592.8:c.1170C>T ENSP00000242592.4:p.Ile390=
ENST00000411593.2:c.1158C>T ENSP00000401045.2:p.Ile386=
NM_000017.3:c.1170C>T NP_000008.1:p.Ile390=
NM_001302554.1:c.1158C>T NP_001289483.1:p.Ile386=
NM_000017.4:c.1170C>T MANE Select NP_000008.1:p.Ile390=
NM_001302554.2:c.1158C>T NP_001289483.1:p.Ile386=
Search 100 bp 5'
Search 100 bp 3'