Canonical Allele Identifier: CA450342986
Gene: SCIRT HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-43997262-C-T
MyVariant Identifiers: chr6:g.43964999C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43997262C>T , CM000668.2:g.43997262C>T GRCh38
NC_000006.11:g.43964999C>T , CM000668.1:g.43964999C>T GRCh37
NC_000006.10:g.44072977C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125864.1:n.693G>A (SCIRT)
NR_125865.1:n.477G>A (SCIRT)
NM_001318876.2:c.946-444628C>T (POLR1C) NP_001305805.1:n.946-444628C>T