Canonical Allele Identifier: CA136823643
Gene: POU5F1 HGNC NCBI

Linked Data

dbSNP Id: rs987823139
gnomAD v3: 6-31172361-C-T
gnomAD v4: 6-31172361-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31172361C>T , CM000668.2:g.31172361C>T GRCh38
NC_000006.11:g.31140138C>T , CM000668.1:g.31140138C>T GRCh37
NC_000006.10:g.31248117C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000441888.7:c.-183-6314G>A ENSP00000389359.2:n.-183-6314G>A