Canonical Allele Identifier: CA2677945018
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

gnomAD v4: 6-31174386-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31174386G>T , CM000668.2:g.31174386G>T GRCh38
NC_000006.11:g.31142163G>T , CM000668.1:g.31142163G>T GRCh37
NC_000006.10:g.31250142G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+6233C>A (POU5F1) ENSP00000389359.2:n.-184+6233C>A
NR_026816.1:n.262-116C>A (PSORS1C3)
NR_026816.2:n.554-116C>A (PSORS1C3)
NR_152828.1:n.770+140C>A (PSORS1C3)
NR_152829.1:n.851+140C>A (PSORS1C3)
NR_152830.1:n.585-116C>A (PSORS1C3)
NR_152831.1:n.293-116C>A (PSORS1C3)
NR_152832.1:n.414-116C>A (PSORS1C3)
NR_152833.1:n.771-116C>A (PSORS1C3)
NR_152834.1:n.1038-116C>A (PSORS1C3)
NR_152835.1:n.293-353C>A (PSORS1C3)
NR_152836.1:n.584+140C>A (PSORS1C3)
NR_152837.1:n.624-116C>A (PSORS1C3)
NR_152838.1:n.821-353C>A (PSORS1C3)
NR_152839.1:n.554-353C>A (PSORS1C3)