Canonical Allele Identifier: CA252886
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 3834
ClinVar RCV Id: RCV000004038 RCV001562350
dbSNP Id: rs28940874
ExAC: 12:121175742 C / T
gnomAD v2: 12-121175742-C-T
gnomAD v3: 12-120737939-C-T
gnomAD v4: 12-120737939-C-T
MyVariant Identifiers: chr12:g.121175742C>T (hg19) chr12:g.120737939C>T (hg38)
PubMed: PMID:11134486
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737939C>T , CM000674.2:g.120737939C>T GRCh38
NC_000012.11:g.121175742C>T , CM000674.1:g.121175742C>T GRCh37
NC_000012.10:g.119660125C>T NCBI36
NG_007991.1:g.17172C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.575C>T MANE Select ENSP00000242592.4:p.Ala192Val
ENST00000242592.8:c.575C>T ENSP00000242592.4:p.Ala192Val
ENST00000411593.2:c.473-110C>T ENSP00000401045.2:n.473-110C>T
NM_000017.3:c.575C>T NP_000008.1:p.Ala192Val
NM_001302554.1:c.473-110C>T NP_001289483.1:n.473-110C>T
NM_000017.4:c.575C>T MANE Select NP_000008.1:p.Ala192Val
NM_001302554.2:c.473-110C>T NP_001289483.1:n.473-110C>T
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Search 100 bp 3'