Canonical Allele Identifier: CA1119008363

Gene: POU5F1B CASC21 CASC8

Linked Data

• dbSNP Id: rs545172107
• gnomAD v3: 8-127343407-G-A
• gnomAD v4: 8-127343407-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127343407G>A , CM000670.2:g.127343407G>A	GRCh38
NC_000008.10:g.128355653G>A , CM000670.1:g.128355653G>A	GRCh37
NC_000008.9:g.128424835G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-560+3972G>A (POU5F1B)	ENSP00000495779.1:n.-560+3972G>A
NR_117099.1:n.457+3972G>A (CASC21)
NR_117100.1:n.1177-53347C>T (CASC8)