Canonical Allele Identifier: CA1624778799
Gene: SCIRT HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1769858413
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43997401T>C , CM000668.2:g.43997401T>C GRCh38
NC_000006.11:g.43965138T>C , CM000668.1:g.43965138T>C GRCh37
NC_000006.10:g.44073116T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125864.1:n.647-93A>G (SCIRT)
NR_125865.1:n.431-93A>G (SCIRT)
NM_001318876.2:c.946-444489T>C (POLR1C) NP_001305805.1:n.946-444489T>C
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