Canonical Allele Identifier: CA10641176
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 307448
ClinVar RCV Id: RCV000330669 RCV001618537
dbSNP Id: rs628909
gnomAD v2: 12-121177500-G-A
gnomAD v3: 12-120739697-G-A
gnomAD v4: 12-120739697-G-A
MyVariant Identifiers: chr12:g.121177500G>A (hg19) chr12:g.120739697G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739697G>A , CM000674.2:g.120739697G>A GRCh38
NC_000012.11:g.121177500G>A , CM000674.1:g.121177500G>A GRCh37
NC_000012.10:g.119661883G>A NCBI36
NG_007991.1:g.18930G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*249G>A MANE Select ENSP00000242592.4:n.*249G>A
ENST00000242592.8:c.*249G>A ENSP00000242592.4:n.*249G>A
NM_000017.3:c.*249G>A NP_000008.1:n.*249G>A
NM_001302554.1:c.*249G>A NP_001289483.1:n.*249G>A
NM_000017.4:c.*249G>A MANE Select NP_000008.1:n.*249G>A
NM_001302554.2:c.*249G>A NP_001289483.1:n.*249G>A
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