Canonical Allele Identifier: CA138465000
Gene: SCIRT HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs532220478
gnomAD v4: 6-43997338-A-G
MyVariant Identifiers: chr6:g.43965075A>G (hg19) chr6:g.43997338A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43997338A>G , CM000668.2:g.43997338A>G GRCh38
NC_000006.11:g.43965075A>G , CM000668.1:g.43965075A>G GRCh37
NC_000006.10:g.44073053A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125864.1:n.647-30T>C (SCIRT)
NR_125865.1:n.431-30T>C (SCIRT)
NM_001318876.2:c.946-444552A>G (POLR1C) NP_001305805.1:n.946-444552A>G
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