Canonical Allele Identifier: CA353698059
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87259946-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259946C>T , CM000665.2:g.87259946C>T GRCh38
NC_000003.11:g.87309096C>T , CM000665.1:g.87309096C>T GRCh37
NC_000003.10:g.87391786C>T NCBI36
NG_008225.2:g.21642G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.902G>A ENSP00000342931.3:p.Ser301Asn
ENST00000350375.7:c.824G>A MANE Select ENSP00000263781.2:p.Ser275Asn
ENST00000344265.7:c.902G>A ENSP00000342931.3:p.Ser301Asn
ENST00000350375.6:c.824G>A ENSP00000263781.2:p.Ser275Asn
ENST00000560656.1:c.598G>A ENSP00000452610.1:n.598G>A
ENST00000561167.5:c.599G>A ENSP00000454072.1:p.Ser200Asn
NM_000306.3:c.824G>A NP_000297.1:p.Ser275Asn
NM_001122757.2:c.902G>A NP_001116229.1:p.Ser301Asn
NM_000306.4:c.824G>A MANE Select NP_000297.1:p.Ser275Asn
NM_001122757.3:c.902G>A NP_001116229.1:p.Ser301Asn