Canonical Allele Identifier: CA136823951
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

dbSNP Id: rs558433229
gnomAD v3: 6-31175806-T-C
gnomAD v4: 6-31175806-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175806T>C , CM000668.2:g.31175806T>C GRCh38
NC_000006.11:g.31143583T>C , CM000668.1:g.31143583T>C GRCh37
NC_000006.10:g.31251562T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+4813A>G (POU5F1) ENSP00000389359.2:n.-184+4813A>G
NR_026816.1:n.262-1536A>G (PSORS1C3)
NR_026816.2:n.554-1536A>G (PSORS1C3)
NR_152828.1:n.554-980A>G (PSORS1C3)
NR_152829.1:n.703A>G (PSORS1C3)
NR_152830.1:n.554-1250A>G (PSORS1C3)
NR_152831.1:n.293-1536A>G (PSORS1C3)
NR_152832.1:n.414-1536A>G (PSORS1C3)
NR_152833.1:n.554-980A>G (PSORS1C3)
NR_152834.1:n.703A>G (PSORS1C3)
NR_152835.1:n.293-1773A>G (PSORS1C3)
NR_152836.1:n.554-1250A>G (PSORS1C3)
NR_152837.1:n.554-1127A>G (PSORS1C3)
NR_152838.1:n.703A>G (PSORS1C3)
NR_152839.1:n.554-1773A>G (PSORS1C3)