Canonical Allele Identifier: CA2666629881
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87264235-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87264235A>C , CM000665.2:g.87264235A>C GRCh38
NC_000003.11:g.87313385A>C , CM000665.1:g.87313385A>C GRCh37
NC_000003.10:g.87396075A>C NCBI36
NG_008225.2:g.17353T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000344265.8:c.517+53T>G ENSP00000342931.3:n.517+53T>G
ENST00000350375.7:c.439+53T>G MANE Select ENSP00000263781.2:n.439+53T>G
ENST00000344265.7:c.517+53T>G ENSP00000342931.3:n.517+53T>G
ENST00000350375.6:c.439+53T>G ENSP00000263781.2:n.439+53T>G
ENST00000560656.1:c.439+53T>G ENSP00000452610.1:n.439+53T>G
ENST00000561167.5:c.215-2000T>G ENSP00000454072.1:n.215-2000T>G
NM_000306.3:c.439+53T>G NP_000297.1:n.439+53T>G
NM_001122757.2:c.517+53T>G NP_001116229.1:n.517+53T>G
NM_000306.4:c.439+53T>G MANE Select NP_000297.1:n.439+53T>G
NM_001122757.3:c.517+53T>G NP_001116229.1:n.517+53T>G
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