Canonical Allele Identifier: CA2770500583
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175767G>A , CM000668.2:g.31175767G>A GRCh38
NC_000006.11:g.31143544G>A , CM000668.1:g.31143544G>A GRCh37
NC_000006.10:g.31251523G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000441888.7:c.-184+4852C>T (POU5F1) ENSP00000389359.2:n.-184+4852C>T
NR_026816.1:n.262-1497C>T (PSORS1C3)
NR_026816.2:n.554-1497C>T (PSORS1C3)
NR_152828.1:n.554-941C>T (PSORS1C3)
NR_152829.1:n.742C>T (PSORS1C3)
NR_152830.1:n.554-1211C>T (PSORS1C3)
NR_152831.1:n.293-1497C>T (PSORS1C3)
NR_152832.1:n.414-1497C>T (PSORS1C3)
NR_152833.1:n.554-941C>T (PSORS1C3)
NR_152834.1:n.742C>T (PSORS1C3)
NR_152835.1:n.293-1734C>T (PSORS1C3)
NR_152836.1:n.554-1211C>T (PSORS1C3)
NR_152837.1:n.554-1088C>T (PSORS1C3)
NR_152838.1:n.742C>T (PSORS1C3)
NR_152839.1:n.554-1734C>T (PSORS1C3)