Canonical Allele Identifier: CA6831112
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 882156
ClinVar RCV Id: RCV001111595 RCV003973080
dbSNP Id: rs763162492
ExAC: 12:121176446 G / A
gnomAD v2: 12-121176446-G-A
gnomAD v3: 12-120738643-G-A
gnomAD v4: 12-120738643-G-A
MyVariant Identifiers: chr12:g.121176446G>A (hg19) chr12:g.120738643G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738643G>A , CM000674.2:g.120738643G>A GRCh38
NC_000012.11:g.121176446G>A , CM000674.1:g.121176446G>A GRCh37
NC_000012.10:g.119660829G>A NCBI36
NG_007991.1:g.17876G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.906G>A MANE Select ENSP00000242592.4:p.Ala302=
ENST00000242592.8:c.906G>A ENSP00000242592.4:p.Ala302=
ENST00000411593.2:c.894G>A ENSP00000401045.2:p.Ala298=
NM_000017.3:c.906G>A NP_000008.1:p.Ala302=
NM_001302554.1:c.894G>A NP_001289483.1:p.Ala298=
NM_000017.4:c.906G>A MANE Select NP_000008.1:p.Ala302=
NM_001302554.2:c.894G>A NP_001289483.1:p.Ala298=
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