Canonical Allele Identifier: CA353698270
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87260039-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260039A>C , CM000665.2:g.87260039A>C GRCh38
NC_000003.11:g.87309189A>C , CM000665.1:g.87309189A>C GRCh37
NC_000003.10:g.87391879A>C NCBI36
NG_008225.2:g.21549T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.809T>G ENSP00000342931.3:p.Ile270Ser
ENST00000350375.7:c.731T>G MANE Select ENSP00000263781.2:p.Ile244Ser
ENST00000344265.7:c.809T>G ENSP00000342931.3:p.Ile270Ser
ENST00000350375.6:c.731T>G ENSP00000263781.2:p.Ile244Ser
ENST00000560656.1:c.505T>G ENSP00000452610.1:p.Ser169Ala
ENST00000561167.5:c.506T>G ENSP00000454072.1:p.Ile169Ser
NM_000306.3:c.731T>G NP_000297.1:p.Ile244Ser
NM_001122757.2:c.809T>G NP_001116229.1:p.Ile270Ser
NM_000306.4:c.731T>G MANE Select NP_000297.1:p.Ile244Ser
NM_001122757.3:c.809T>G NP_001116229.1:p.Ile270Ser