Canonical Allele Identifier: CA434575674
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87262084-A-C
MyVariant Identifiers: chr3:g.87311234A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87262084A>C , CM000665.2:g.87262084A>C GRCh38
NC_000003.11:g.87311234A>C , CM000665.1:g.87311234A>C GRCh37
NC_000003.10:g.87393924A>C NCBI36
NG_008225.2:g.19504T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.669T>G ENSP00000342931.3:p.Ala223=
ENST00000350375.7:c.591T>G MANE Select ENSP00000263781.2:p.Ala197=
ENST00000344265.7:c.669T>G ENSP00000342931.3:p.Ala223=
ENST00000350375.6:c.591T>G ENSP00000263781.2:p.Ala197=
ENST00000560656.1:c.440-1980T>G ENSP00000452610.1:n.440-1980T>G
ENST00000561167.5:c.366T>G ENSP00000454072.1:p.Ala122=
NM_000306.3:c.591T>G NP_000297.1:p.Ala197=
NM_001122757.2:c.669T>G NP_001116229.1:p.Ala223=
NM_000306.4:c.591T>G MANE Select NP_000297.1:p.Ala197=
NM_001122757.3:c.669T>G NP_001116229.1:p.Ala223=