Canonical Allele Identifier: CA2621371212
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120739648-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739648C>A , CM000674.2:g.120739648C>A GRCh38
NC_000012.11:g.121177451C>A , CM000674.1:g.121177451C>A GRCh37
NC_000012.10:g.119661834C>A NCBI36
NG_007991.1:g.18881C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*200C>A MANE Select ENSP00000242592.4:n.*200C>A
ENST00000242592.8:c.*200C>A ENSP00000242592.4:n.*200C>A
NM_000017.3:c.*200C>A NP_000008.1:n.*200C>A
NM_001302554.1:c.*200C>A NP_001289483.1:n.*200C>A
NM_000017.4:c.*200C>A MANE Select NP_000008.1:n.*200C>A
NM_001302554.2:c.*200C>A NP_001289483.1:n.*200C>A
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