Canonical Allele Identifier: CA824995362
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1304609207
gnomAD v3: 6-44313423-C-T
gnomAD v4: 6-44313423-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313423C>T , CM000668.2:g.44313423C>T GRCh38
NC_000006.11:g.44281160C>T , CM000668.1:g.44281160C>T GRCh37
NC_000006.10:g.44389138C>T NCBI36
NG_031952.1:g.4904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5781C>T
NM_001318876.2:c.946-128467C>T NP_001305805.1:n.946-128467C>T