Canonical Allele Identifier: CA2711457309
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

dbSNP Id: rs2151126139

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175877C>T , CM000668.2:g.31175877C>T GRCh38
NC_000006.11:g.31143654C>T , CM000668.1:g.31143654C>T GRCh37
NC_000006.10:g.31251633C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+4742G>A (POU5F1) ENSP00000389359.2:n.-184+4742G>A
NR_026816.1:n.262-1607G>A (PSORS1C3)
NR_026816.2:n.554-1607G>A (PSORS1C3)
NR_152828.1:n.554-1051G>A (PSORS1C3)
NR_152829.1:n.632G>A (PSORS1C3)
NR_152830.1:n.554-1321G>A (PSORS1C3)
NR_152831.1:n.293-1607G>A (PSORS1C3)
NR_152832.1:n.414-1607G>A (PSORS1C3)
NR_152833.1:n.554-1051G>A (PSORS1C3)
NR_152834.1:n.632G>A (PSORS1C3)
NR_152835.1:n.293-1844G>A (PSORS1C3)
NR_152836.1:n.554-1321G>A (PSORS1C3)
NR_152837.1:n.554-1198G>A (PSORS1C3)
NR_152838.1:n.632G>A (PSORS1C3)
NR_152839.1:n.553+1762G>A (PSORS1C3)