Canonical Allele Identifier: CA824995345
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1460031714
gnomAD v3: 6-44313399-C-T
gnomAD v4: 6-44313399-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313399C>T , CM000668.2:g.44313399C>T GRCh38
NC_000006.11:g.44281136C>T , CM000668.1:g.44281136C>T GRCh37
NC_000006.10:g.44389114C>T NCBI36
NG_031952.1:g.4928G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5757C>T
NM_001318876.2:c.946-128491C>T NP_001305805.1:n.946-128491C>T