Canonical Allele Identifier: CA1139662940
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 880819
ClinVar RCV Id: RCV001109376
dbSNP Id: rs1883596141
gnomAD v4: 12-120739683-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739683C>T , CM000674.2:g.120739683C>T GRCh38
NC_000012.11:g.121177486C>T , CM000674.1:g.121177486C>T GRCh37
NC_000012.10:g.119661869C>T NCBI36
NG_007991.1:g.18916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*235C>T MANE Select ENSP00000242592.4:n.*235C>T
ENST00000242592.8:c.*235C>T ENSP00000242592.4:n.*235C>T
NM_000017.3:c.*235C>T NP_000008.1:n.*235C>T
NM_001302554.1:c.*235C>T NP_001289483.1:n.*235C>T
NM_000017.4:c.*235C>T MANE Select NP_000008.1:n.*235C>T
NM_001302554.2:c.*235C>T NP_001289483.1:n.*235C>T
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