Canonical Allele Identifier: CA824957361

Gene: SCIRT POLR1C

Linked Data

• dbSNP Id: rs1355293227
• gnomAD v3: 6-43997351-G-A
• gnomAD v4: 6-43997351-G-A
• MyVariant Identifiers: chr6:g.43965088G>A (hg19) ; chr6:g.43997351G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43997351G>A , CM000668.2:g.43997351G>A	GRCh38
NC_000006.11:g.43965088G>A , CM000668.1:g.43965088G>A	GRCh37
NC_000006.10:g.44073066G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125864.1:n.647-43C>T (SCIRT)
NR_125865.1:n.431-43C>T (SCIRT)
NM_001318876.2:c.946-444539G>A (POLR1C)	NP_001305805.1:n.946-444539G>A