Canonical Allele Identifier: CA566819311
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1482425623
gnomAD v2: 6-43737747-G-A
gnomAD v3: 6-43770010-G-A
gnomAD v4: 6-43770010-G-A
MyVariant Identifiers: chr6:g.43737747G>A (hg19) chr6:g.43770010G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43770010G>A , CM000668.2:g.43770010G>A GRCh38
NC_000006.11:g.43737747G>A , CM000668.1:g.43737747G>A GRCh37
NC_000006.10:g.43845725G>A NCBI36
NG_008732.1:g.4795G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001318876.2:c.945+240739G>A NP_001305805.1:n.945+240739G>A
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