Canonical Allele Identifier: CA684419565
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 884115
ClinVar RCV Id: RCV001115014
dbSNP Id: rs1273364186
gnomAD v4: 12-120739610-C-T
MyVariant Identifiers: chr12:g.121177413C>T (hg19) chr12:g.120739610C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739610C>T , CM000674.2:g.120739610C>T GRCh38
NC_000012.11:g.121177413C>T , CM000674.1:g.121177413C>T GRCh37
NC_000012.10:g.119661796C>T NCBI36
NG_007991.1:g.18843C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*162C>T MANE Select ENSP00000242592.4:n.*162C>T
ENST00000242592.8:c.*162C>T ENSP00000242592.4:n.*162C>T
NM_000017.3:c.*162C>T NP_000008.1:n.*162C>T
NM_001302554.1:c.*162C>T NP_001289483.1:n.*162C>T
NM_000017.4:c.*162C>T MANE Select NP_000008.1:n.*162C>T
NM_001302554.2:c.*162C>T NP_001289483.1:n.*162C>T
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