Canonical Allele Identifier: CA566335658
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

dbSNP Id: rs1196965698
gnomAD v2: 6-31143368-T-C
gnomAD v3: 6-31175591-T-C
gnomAD v4: 6-31175591-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175591T>C , CM000668.2:g.31175591T>C GRCh38
NC_000006.11:g.31143368T>C , CM000668.1:g.31143368T>C GRCh37
NC_000006.10:g.31251347T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000441888.7:c.-184+5028A>G (POU5F1) ENSP00000389359.2:n.-184+5028A>G
NR_026816.1:n.262-1321A>G (PSORS1C3)
NR_026816.2:n.554-1321A>G (PSORS1C3)
NR_152828.1:n.554-765A>G (PSORS1C3)
NR_152829.1:n.820+98A>G (PSORS1C3)
NR_152830.1:n.554-1035A>G (PSORS1C3)
NR_152831.1:n.293-1321A>G (PSORS1C3)
NR_152832.1:n.414-1321A>G (PSORS1C3)
NR_152833.1:n.554-765A>G (PSORS1C3)
NR_152834.1:n.820+98A>G (PSORS1C3)
NR_152835.1:n.293-1558A>G (PSORS1C3)
NR_152836.1:n.554-1035A>G (PSORS1C3)
NR_152837.1:n.554-912A>G (PSORS1C3)
NR_152838.1:n.820+98A>G (PSORS1C3)
NR_152839.1:n.554-1558A>G (PSORS1C3)