Canonical Allele Identifier: CA3834779
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs762775534
gnomAD v2: 6-44281097-T-C
gnomAD v4: 6-44313360-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313360T>C , CM000668.2:g.44313360T>C GRCh38
NC_000006.11:g.44281097T>C , CM000668.1:g.44281097T>C GRCh37
NC_000006.10:g.44389075T>C NCBI36
NG_031952.1:g.4967A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5718T>C
NM_001318876.2:c.946-128530T>C NP_001305805.1:n.946-128530T>C