Canonical Allele Identifier: CA1619036459
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

dbSNP Id: rs1777959243
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175615C>G , CM000668.2:g.31175615C>G GRCh38
NC_000006.11:g.31143392C>G , CM000668.1:g.31143392C>G GRCh37
NC_000006.10:g.31251371C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000441888.7:c.-184+5004G>C (POU5F1) ENSP00000389359.2:n.-184+5004G>C
NR_026816.1:n.262-1345G>C (PSORS1C3)
NR_026816.2:n.554-1345G>C (PSORS1C3)
NR_152828.1:n.554-789G>C (PSORS1C3)
NR_152829.1:n.820+74G>C (PSORS1C3)
NR_152830.1:n.554-1059G>C (PSORS1C3)
NR_152831.1:n.293-1345G>C (PSORS1C3)
NR_152832.1:n.414-1345G>C (PSORS1C3)
NR_152833.1:n.554-789G>C (PSORS1C3)
NR_152834.1:n.820+74G>C (PSORS1C3)
NR_152835.1:n.293-1582G>C (PSORS1C3)
NR_152836.1:n.554-1059G>C (PSORS1C3)
NR_152837.1:n.554-936G>C (PSORS1C3)
NR_152838.1:n.820+74G>C (PSORS1C3)
NR_152839.1:n.554-1582G>C (PSORS1C3)
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