Canonical Allele Identifier: CA824995355
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1229272755
gnomAD v3: 6-44313413-A-C
gnomAD v4: 6-44313413-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313413A>C , CM000668.2:g.44313413A>C GRCh38
NC_000006.11:g.44281150A>C , CM000668.1:g.44281150A>C GRCh37
NC_000006.10:g.44389128A>C NCBI36
NG_031952.1:g.4914T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5771A>C
NM_001318876.2:c.946-128477A>C NP_001305805.1:n.946-128477A>C