Canonical Allele Identifier: CA450342891
Gene: SCIRT HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-43997246-C-A
MyVariant Identifiers: chr6:g.43964983C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43997246C>A , CM000668.2:g.43997246C>A GRCh38
NC_000006.11:g.43964983C>A , CM000668.1:g.43964983C>A GRCh37
NC_000006.10:g.44072961C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125864.1:n.709G>T (SCIRT)
NR_125865.1:n.493G>T (SCIRT)
NM_001318876.2:c.946-444644C>A (POLR1C) NP_001305805.1:n.946-444644C>A