Canonical Allele Identifier: CA566335523

Gene: POU5F1

Linked Data

• dbSNP Id: rs1362744572
• gnomAD v2: 6-31140003-C-T
• gnomAD v3: 6-31172226-C-T
• gnomAD v4: 6-31172226-C-T
• MyVariant Identifiers: chr6:g.31140003C>T (hg19) ; chr6:g.31172226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31172226C>T , CM000668.2:g.31172226C>T	GRCh38
NC_000006.11:g.31140003C>T , CM000668.1:g.31140003C>T	GRCh37
NC_000006.10:g.31247982C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000441888.7:c.-183-6179G>A	ENSP00000389359.2:n.-183-6179G>A