Canonical Allele Identifier: CA2677945024

Gene: POU5F1 PSORS1C3

Linked Data

• gnomAD v4: 6-31174390-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31174390C>T , CM000668.2:g.31174390C>T	GRCh38
NC_000006.11:g.31142167C>T , CM000668.1:g.31142167C>T	GRCh37
NC_000006.10:g.31250146C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000441888.7:c.-184+6229G>A (POU5F1)	ENSP00000389359.2:n.-184+6229G>A
NR_026816.1:n.262-120G>A (PSORS1C3)
NR_026816.2:n.554-120G>A (PSORS1C3)
NR_152828.1:n.770+136G>A (PSORS1C3)
NR_152829.1:n.851+136G>A (PSORS1C3)
NR_152830.1:n.585-120G>A (PSORS1C3)
NR_152831.1:n.293-120G>A (PSORS1C3)
NR_152832.1:n.414-120G>A (PSORS1C3)
NR_152833.1:n.771-120G>A (PSORS1C3)
NR_152834.1:n.1038-120G>A (PSORS1C3)
NR_152835.1:n.293-357G>A (PSORS1C3)
NR_152836.1:n.584+136G>A (PSORS1C3)
NR_152837.1:n.624-120G>A (PSORS1C3)
NR_152838.1:n.821-357G>A (PSORS1C3)
NR_152839.1:n.554-357G>A (PSORS1C3)