Canonical Allele Identifier: CA2677945013
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

gnomAD v4: 6-31174380-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31174380G>T , CM000668.2:g.31174380G>T GRCh38
NC_000006.11:g.31142157G>T , CM000668.1:g.31142157G>T GRCh37
NC_000006.10:g.31250136G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+6239C>A (POU5F1) ENSP00000389359.2:n.-184+6239C>A
NR_026816.1:n.262-110C>A (PSORS1C3)
NR_026816.2:n.554-110C>A (PSORS1C3)
NR_152828.1:n.770+146C>A (PSORS1C3)
NR_152829.1:n.851+146C>A (PSORS1C3)
NR_152830.1:n.585-110C>A (PSORS1C3)
NR_152831.1:n.293-110C>A (PSORS1C3)
NR_152832.1:n.414-110C>A (PSORS1C3)
NR_152833.1:n.771-110C>A (PSORS1C3)
NR_152834.1:n.1038-110C>A (PSORS1C3)
NR_152835.1:n.293-347C>A (PSORS1C3)
NR_152836.1:n.584+146C>A (PSORS1C3)
NR_152837.1:n.624-110C>A (PSORS1C3)
NR_152838.1:n.821-347C>A (PSORS1C3)
NR_152839.1:n.554-347C>A (PSORS1C3)