Canonical Allele Identifier: CA353697981
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87259913-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259913T>G , CM000665.2:g.87259913T>G GRCh38
NC_000003.11:g.87309063T>G , CM000665.1:g.87309063T>G GRCh37
NC_000003.10:g.87391753T>G NCBI36
NG_008225.2:g.21675A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.935A>C ENSP00000342931.3:p.Glu312Ala
ENST00000350375.7:c.857A>C MANE Select ENSP00000263781.2:p.Glu286Ala
ENST00000344265.7:c.935A>C ENSP00000342931.3:p.Glu312Ala
ENST00000350375.6:c.857A>C ENSP00000263781.2:p.Glu286Ala
ENST00000560656.1:c.631A>C ENSP00000452610.1:n.631A>C
ENST00000561167.5:c.632A>C ENSP00000454072.1:p.Glu211Ala
NM_000306.3:c.857A>C NP_000297.1:p.Glu286Ala
NM_001122757.2:c.935A>C NP_001116229.1:p.Glu312Ala
NM_000306.4:c.857A>C MANE Select NP_000297.1:p.Glu286Ala
NM_001122757.3:c.935A>C NP_001116229.1:p.Glu312Ala