Canonical Allele Identifier: CA2578633546
Gene: POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44313427-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313427C>T , CM000668.2:g.44313427C>T GRCh38
NC_000006.11:g.44281164C>T , CM000668.1:g.44281164C>T GRCh37
NC_000006.10:g.44389142C>T NCBI36
NG_031952.1:g.4900G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5785C>T
NM_001318876.2:c.946-128463C>T NP_001305805.1:n.946-128463C>T