Canonical Allele Identifier: CA2677945017
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

gnomAD v4: 6-31174385-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31174385T>C , CM000668.2:g.31174385T>C GRCh38
NC_000006.11:g.31142162T>C , CM000668.1:g.31142162T>C GRCh37
NC_000006.10:g.31250141T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+6234A>G (POU5F1) ENSP00000389359.2:n.-184+6234A>G
NR_026816.1:n.262-115A>G (PSORS1C3)
NR_026816.2:n.554-115A>G (PSORS1C3)
NR_152828.1:n.770+141A>G (PSORS1C3)
NR_152829.1:n.851+141A>G (PSORS1C3)
NR_152830.1:n.585-115A>G (PSORS1C3)
NR_152831.1:n.293-115A>G (PSORS1C3)
NR_152832.1:n.414-115A>G (PSORS1C3)
NR_152833.1:n.771-115A>G (PSORS1C3)
NR_152834.1:n.1038-115A>G (PSORS1C3)
NR_152835.1:n.293-352A>G (PSORS1C3)
NR_152836.1:n.584+141A>G (PSORS1C3)
NR_152837.1:n.624-115A>G (PSORS1C3)
NR_152838.1:n.821-352A>G (PSORS1C3)
NR_152839.1:n.554-352A>G (PSORS1C3)