Canonical Allele Identifier: CA136823627
Gene: POU5F1 HGNC NCBI

Linked Data

dbSNP Id: rs771383555
gnomAD v3: 6-31172213-C-A
gnomAD v4: 6-31172213-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31172213C>A , CM000668.2:g.31172213C>A GRCh38
NC_000006.11:g.31139990C>A , CM000668.1:g.31139990C>A GRCh37
NC_000006.10:g.31247969C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-183-6166G>T ENSP00000389359.2:n.-183-6166G>T