Canonical Allele Identifier: CA312238
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 1500868
ClinVar RCV Id: RCV002015980
dbSNP Id: rs202124189
gnomAD v2: 12-121177165-G-A
gnomAD v3: 12-120739362-G-A
gnomAD v4: 12-120739362-G-A
MyVariant Identifiers: chr12:g.121177165G>A (hg19) chr12:g.120739362G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739362G>A , CM000674.2:g.120739362G>A GRCh38
NC_000012.11:g.121177165G>A , CM000674.1:g.121177165G>A GRCh37
NC_000012.10:g.119661548G>A NCBI36
NG_007991.1:g.18595G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1153G>A MANE Select ENSP00000242592.4:p.Ala385Thr
ENST00000242592.8:c.1153G>A ENSP00000242592.4:p.Ala385Thr
ENST00000411593.2:c.1141G>A ENSP00000401045.2:p.Ala381Thr
NM_000017.3:c.1153G>A NP_000008.1:p.Ala385Thr
NM_001302554.1:c.1141G>A NP_001289483.1:p.Ala381Thr
NM_000017.4:c.1153G>A MANE Select NP_000008.1:p.Ala385Thr
NM_001302554.2:c.1141G>A NP_001289483.1:p.Ala381Thr
Search 100 bp 5'
Search 100 bp 3'