Canonical Allele Identifier: CA244495960
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs940390916
gnomAD v2: 12-121177501-G-A
gnomAD v3: 12-120739698-G-A
gnomAD v4: 12-120739698-G-A
MyVariant Identifiers: chr12:g.121177501G>A (hg19) chr12:g.120739698G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739698G>A , CM000674.2:g.120739698G>A GRCh38
NC_000012.11:g.121177501G>A , CM000674.1:g.121177501G>A GRCh37
NC_000012.10:g.119661884G>A NCBI36
NG_007991.1:g.18931G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*250G>A MANE Select ENSP00000242592.4:n.*250G>A
ENST00000242592.8:c.*250G>A ENSP00000242592.4:n.*250G>A
NM_000017.3:c.*250G>A NP_000008.1:n.*250G>A
NM_001302554.1:c.*250G>A NP_001289483.1:n.*250G>A
NM_000017.4:c.*250G>A MANE Select NP_000008.1:n.*250G>A
NM_001302554.2:c.*250G>A NP_001289483.1:n.*250G>A
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