Canonical Allele Identifier: CA2678914250

Gene: SCIRT POLR1C

Linked Data

• gnomAD v4: 6-43997343-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43997343G>A , CM000668.2:g.43997343G>A	GRCh38
NC_000006.11:g.43965080G>A , CM000668.1:g.43965080G>A	GRCh37
NC_000006.10:g.44073058G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125864.1:n.647-35C>T (SCIRT)
NR_125865.1:n.431-35C>T (SCIRT)
NM_001318876.2:c.946-444547G>A (POLR1C)	NP_001305805.1:n.946-444547G>A