Canonical Allele Identifier: CA1088386662
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1048349810
gnomAD v3: 6-43769900-C-A
gnomAD v4: 6-43769900-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43769900C>A , CM000668.2:g.43769900C>A GRCh38
NC_000006.11:g.43737637C>A , CM000668.1:g.43737637C>A GRCh37
NC_000006.10:g.43845615C>A NCBI36
NG_008732.1:g.4685C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001318876.2:c.945+240629C>A NP_001305805.1:n.945+240629C>A