Canonical Allele Identifier: CA2499980090
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175836T>G , CM000668.2:g.31175836T>G GRCh38
NC_000006.11:g.31143613T>G , CM000668.1:g.31143613T>G GRCh37
NC_000006.10:g.31251592T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+4783A>C (POU5F1) ENSP00000389359.2:n.-184+4783A>C
NR_026816.1:n.262-1566A>C (PSORS1C3)
NR_026816.2:n.554-1566A>C (PSORS1C3)
NR_152828.1:n.554-1010A>C (PSORS1C3)
NR_152829.1:n.673A>C (PSORS1C3)
NR_152830.1:n.554-1280A>C (PSORS1C3)
NR_152831.1:n.293-1566A>C (PSORS1C3)
NR_152832.1:n.414-1566A>C (PSORS1C3)
NR_152833.1:n.554-1010A>C (PSORS1C3)
NR_152834.1:n.673A>C (PSORS1C3)
NR_152835.1:n.293-1803A>C (PSORS1C3)
NR_152836.1:n.554-1280A>C (PSORS1C3)
NR_152837.1:n.554-1157A>C (PSORS1C3)
NR_152838.1:n.673A>C (PSORS1C3)
NR_152839.1:n.554-1803A>C (PSORS1C3)