Canonical Allele Identifier: CA353698032
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87259935-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259935T>C , CM000665.2:g.87259935T>C GRCh38
NC_000003.11:g.87309085T>C , CM000665.1:g.87309085T>C GRCh37
NC_000003.10:g.87391775T>C NCBI36
NG_008225.2:g.21653A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.913A>G ENSP00000342931.3:p.Ser305Gly
ENST00000350375.7:c.835A>G MANE Select ENSP00000263781.2:p.Ser279Gly
ENST00000344265.7:c.913A>G ENSP00000342931.3:p.Ser305Gly
ENST00000350375.6:c.835A>G ENSP00000263781.2:p.Ser279Gly
ENST00000560656.1:c.609A>G ENSP00000452610.1:n.609A>G
ENST00000561167.5:c.610A>G ENSP00000454072.1:p.Ser204Gly
NM_000306.3:c.835A>G NP_000297.1:p.Ser279Gly
NM_001122757.2:c.913A>G NP_001116229.1:p.Ser305Gly
NM_000306.4:c.835A>G MANE Select NP_000297.1:p.Ser279Gly
NM_001122757.3:c.913A>G NP_001116229.1:p.Ser305Gly