Canonical Allele Identifier: CA138396426
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs748170225
gnomAD v4: 6-44313417-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313417A>C , CM000668.2:g.44313417A>C GRCh38
NC_000006.11:g.44281154A>C , CM000668.1:g.44281154A>C GRCh37
NC_000006.10:g.44389132A>C NCBI36
NG_031952.1:g.4910T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5775A>C
NM_001318876.2:c.946-128473A>C NP_001305805.1:n.946-128473A>C