Canonical Allele Identifier: CA566335519
Gene: POU5F1 HGNC NCBI

Linked Data

dbSNP Id: rs1408506621
gnomAD v2: 6-31139965-A-T
gnomAD v3: 6-31172188-A-T
gnomAD v4: 6-31172188-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31172188A>T , CM000668.2:g.31172188A>T GRCh38
NC_000006.11:g.31139965A>T , CM000668.1:g.31139965A>T GRCh37
NC_000006.10:g.31247944A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-183-6141T>A ENSP00000389359.2:n.-183-6141T>A