Canonical Allele Identifier: CA259861
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 30613
ClinVar RCV Id: RCV000023587
dbSNP Id: rs387906951
gnomAD v2: 12-121174901-G-A
gnomAD v4: 12-120737098-G-A
MyVariant Identifiers: chr12:g.121174901G>A (hg19) chr12:g.120737098G>A (hg38)
PubMed: PMID:20376488
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737098G>A , CM000674.2:g.120737098G>A GRCh38
NC_000012.11:g.121174901G>A , CM000674.1:g.121174901G>A GRCh37
NC_000012.10:g.119659284G>A NCBI36
NG_007991.1:g.16331G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.323G>A MANE Select ENSP00000242592.4:p.Gly108Asp
ENST00000242592.8:c.323G>A ENSP00000242592.4:p.Gly108Asp
ENST00000411593.2:c.323G>A ENSP00000401045.2:p.Gly108Asp
ENST00000539690.1:n.435G>A
NM_000017.3:c.323G>A NP_000008.1:p.Gly108Asp
NM_001302554.1:c.323G>A NP_001289483.1:p.Gly108Asp
NM_000017.4:c.323G>A MANE Select NP_000008.1:p.Gly108Asp
NM_001302554.2:c.323G>A NP_001289483.1:p.Gly108Asp
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