Canonical Allele Identifier: CA136823954
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

dbSNP Id: rs1022618346

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175878A>G , CM000668.2:g.31175878A>G GRCh38
NC_000006.11:g.31143655A>G , CM000668.1:g.31143655A>G GRCh37
NC_000006.10:g.31251634A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+4741T>C (POU5F1) ENSP00000389359.2:n.-184+4741T>C
NR_026816.1:n.262-1608T>C (PSORS1C3)
NR_026816.2:n.554-1608T>C (PSORS1C3)
NR_152828.1:n.554-1052T>C (PSORS1C3)
NR_152829.1:n.631T>C (PSORS1C3)
NR_152830.1:n.554-1322T>C (PSORS1C3)
NR_152831.1:n.293-1608T>C (PSORS1C3)
NR_152832.1:n.414-1608T>C (PSORS1C3)
NR_152833.1:n.554-1052T>C (PSORS1C3)
NR_152834.1:n.631T>C (PSORS1C3)
NR_152835.1:n.293-1845T>C (PSORS1C3)
NR_152836.1:n.554-1322T>C (PSORS1C3)
NR_152837.1:n.554-1199T>C (PSORS1C3)
NR_152838.1:n.631T>C (PSORS1C3)
NR_152839.1:n.553+1761T>C (PSORS1C3)