Canonical Allele Identifier: CA353698315
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87260054-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260054G>T , CM000665.2:g.87260054G>T GRCh38
NC_000003.11:g.87309204G>T , CM000665.1:g.87309204G>T GRCh37
NC_000003.10:g.87391894G>T NCBI36
NG_008225.2:g.21534C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.794C>A ENSP00000342931.3:p.Pro265His
ENST00000350375.7:c.716C>A MANE Select ENSP00000263781.2:p.Pro239His
ENST00000344265.7:c.794C>A ENSP00000342931.3:p.Pro265His
ENST00000350375.6:c.716C>A ENSP00000263781.2:p.Pro239His
ENST00000560656.1:c.490C>A ENSP00000452610.1:p.Leu164Ile
ENST00000561167.5:c.491C>A ENSP00000454072.1:p.Pro164His
NM_000306.3:c.716C>A NP_000297.1:p.Pro239His
NM_001122757.2:c.794C>A NP_001116229.1:p.Pro265His
NM_000306.4:c.716C>A MANE Select NP_000297.1:p.Pro239His
NM_001122757.3:c.794C>A NP_001116229.1:p.Pro265His