Canonical Allele Identifier: CA136823944

Gene: POU5F1 PSORS1C3

Linked Data

• dbSNP Id: rs115380692
• gnomAD v3: 6-31175752-C-G
• gnomAD v4: 6-31175752-C-G
• MyVariant Identifiers: chr6:g.31143529C>G (hg19) ; chr6:g.31175752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31175752C>G , CM000668.2:g.31175752C>G	GRCh38
NC_000006.11:g.31143529C>G , CM000668.1:g.31143529C>G	GRCh37
NC_000006.10:g.31251508C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000441888.7:c.-184+4867G>C (POU5F1)	ENSP00000389359.2:n.-184+4867G>C
NR_026816.1:n.262-1482G>C (PSORS1C3)
NR_026816.2:n.554-1482G>C (PSORS1C3)
NR_152828.1:n.554-926G>C (PSORS1C3)
NR_152829.1:n.757G>C (PSORS1C3)
NR_152830.1:n.554-1196G>C (PSORS1C3)
NR_152831.1:n.293-1482G>C (PSORS1C3)
NR_152832.1:n.414-1482G>C (PSORS1C3)
NR_152833.1:n.554-926G>C (PSORS1C3)
NR_152834.1:n.757G>C (PSORS1C3)
NR_152835.1:n.293-1719G>C (PSORS1C3)
NR_152836.1:n.554-1196G>C (PSORS1C3)
NR_152837.1:n.554-1073G>C (PSORS1C3)
NR_152838.1:n.757G>C (PSORS1C3)
NR_152839.1:n.554-1719G>C (PSORS1C3)