Canonical Allele Identifier: CA566335673

Gene: POU5F1 PSORS1C3

Linked Data

• dbSNP Id: rs1202185817
• gnomAD v2: 6-31143599-G-T
• gnomAD v3: 6-31175822-G-T
• gnomAD v4: 6-31175822-G-T
• MyVariant Identifiers: chr6:g.31143599G>T (hg19) ; chr6:g.31175822G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31175822G>T , CM000668.2:g.31175822G>T	GRCh38
NC_000006.11:g.31143599G>T , CM000668.1:g.31143599G>T	GRCh37
NC_000006.10:g.31251578G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000441888.7:c.-184+4797C>A (POU5F1)	ENSP00000389359.2:n.-184+4797C>A
NR_026816.1:n.262-1552C>A (PSORS1C3)
NR_026816.2:n.554-1552C>A (PSORS1C3)
NR_152828.1:n.554-996C>A (PSORS1C3)
NR_152829.1:n.687C>A (PSORS1C3)
NR_152830.1:n.554-1266C>A (PSORS1C3)
NR_152831.1:n.293-1552C>A (PSORS1C3)
NR_152832.1:n.414-1552C>A (PSORS1C3)
NR_152833.1:n.554-996C>A (PSORS1C3)
NR_152834.1:n.687C>A (PSORS1C3)
NR_152835.1:n.293-1789C>A (PSORS1C3)
NR_152836.1:n.554-1266C>A (PSORS1C3)
NR_152837.1:n.554-1143C>A (PSORS1C3)
NR_152838.1:n.687C>A (PSORS1C3)
NR_152839.1:n.554-1789C>A (PSORS1C3)