Canonical Allele Identifier: CA12230605
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175805A>C , CM000668.2:g.31175805A>C GRCh38
NC_000006.11:g.31143582A>C , CM000668.1:g.31143582A>C GRCh37
NC_000006.10:g.31251561A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000441888.7:c.-184+4814T>G (POU5F1) ENSP00000389359.2:n.-184+4814T>G
NR_026816.1:n.262-1535T>G (PSORS1C3)
NR_026816.2:n.554-1535T>G (PSORS1C3)
NR_152828.1:n.554-979T>G (PSORS1C3)
NR_152829.1:n.704T>G (PSORS1C3)
NR_152830.1:n.554-1249T>G (PSORS1C3)
NR_152831.1:n.293-1535T>G (PSORS1C3)
NR_152832.1:n.414-1535T>G (PSORS1C3)
NR_152833.1:n.554-979T>G (PSORS1C3)
NR_152834.1:n.704T>G (PSORS1C3)
NR_152835.1:n.293-1772T>G (PSORS1C3)
NR_152836.1:n.554-1249T>G (PSORS1C3)
NR_152837.1:n.554-1126T>G (PSORS1C3)
NR_152838.1:n.704T>G (PSORS1C3)
NR_152839.1:n.554-1772T>G (PSORS1C3)
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