Canonical Allele Identifier: CA2621371259
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120739668-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739668T>C , CM000674.2:g.120739668T>C GRCh38
NC_000012.11:g.121177471T>C , CM000674.1:g.121177471T>C GRCh37
NC_000012.10:g.119661854T>C NCBI36
NG_007991.1:g.18901T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*220T>C MANE Select ENSP00000242592.4:n.*220T>C
ENST00000242592.8:c.*220T>C ENSP00000242592.4:n.*220T>C
NM_000017.3:c.*220T>C NP_000008.1:n.*220T>C
NM_001302554.1:c.*220T>C NP_001289483.1:n.*220T>C
NM_000017.4:c.*220T>C MANE Select NP_000008.1:n.*220T>C
NM_001302554.2:c.*220T>C NP_001289483.1:n.*220T>C
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