Canonical Allele Identifier: CA2678955250
Gene: POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44313379-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313379G>T , CM000668.2:g.44313379G>T GRCh38
NC_000006.11:g.44281116G>T , CM000668.1:g.44281116G>T GRCh37
NC_000006.10:g.44389094G>T NCBI36
NG_031952.1:g.4948C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5737G>T
NM_001318876.2:c.946-128511G>T NP_001305805.1:n.946-128511G>T