Canonical Allele Identifier: CA2678914265

Gene: SCIRT POLR1C

Linked Data

• gnomAD v4: 6-43997379-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43997379C>A , CM000668.2:g.43997379C>A	GRCh38
NC_000006.11:g.43965116C>A , CM000668.1:g.43965116C>A	GRCh37
NC_000006.10:g.44073094C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125864.1:n.647-71G>T (SCIRT)
NR_125865.1:n.431-71G>T (SCIRT)
NM_001318876.2:c.946-444511C>A (POLR1C)	NP_001305805.1:n.946-444511C>A