Canonical Allele Identifier: CA136823956
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

dbSNP Id: rs563035165
gnomAD v3: 6-31175934-G-A
gnomAD v4: 6-31175934-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175934G>A , CM000668.2:g.31175934G>A GRCh38
NC_000006.11:g.31143711G>A , CM000668.1:g.31143711G>A GRCh37
NC_000006.10:g.31251690G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000441888.7:c.-184+4685C>T (POU5F1) ENSP00000389359.2:n.-184+4685C>T
NR_026816.1:n.262-1664C>T (PSORS1C3)
NR_026816.2:n.554-1664C>T (PSORS1C3)
NR_152828.1:n.554-1108C>T (PSORS1C3)
NR_152829.1:n.575C>T (PSORS1C3)
NR_152830.1:n.554-1378C>T (PSORS1C3)
NR_152831.1:n.293-1664C>T (PSORS1C3)
NR_152832.1:n.414-1664C>T (PSORS1C3)
NR_152833.1:n.554-1108C>T (PSORS1C3)
NR_152834.1:n.575C>T (PSORS1C3)
NR_152835.1:n.293-1901C>T (PSORS1C3)
NR_152836.1:n.554-1378C>T (PSORS1C3)
NR_152837.1:n.554-1255C>T (PSORS1C3)
NR_152838.1:n.575C>T (PSORS1C3)
NR_152839.1:n.553+1705C>T (PSORS1C3)