Canonical Allele Identifier: CA16618011
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424407
ClinVar RCV Id: RCV000486866 RCV001253703
dbSNP Id: rs1064796954
MyVariant Identifiers: chr3:g.87322632A>C (hg19) chr3:g.87273482A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87273482A>C , CM000665.2:g.87273482A>C GRCh38
NC_000003.11:g.87322632A>C , CM000665.1:g.87322632A>C GRCh37
NC_000003.10:g.87405322A>C NCBI36
NG_008225.2:g.8106T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000344265.8:c.157T>G ENSP00000342931.3:p.Ser53Ala
ENST00000350375.7:c.143-64T>G MANE Select ENSP00000263781.2:n.143-64T>G
ENST00000344265.7:c.157T>G ENSP00000342931.3:p.Ser53Ala
ENST00000350375.6:c.143-64T>G ENSP00000263781.2:n.143-64T>G
ENST00000560656.1:c.143-64T>G ENSP00000452610.1:n.143-64T>G
ENST00000561167.5:c.143-64T>G ENSP00000454072.1:n.143-64T>G
NM_000306.3:c.143-64T>G NP_000297.1:n.143-64T>G
NM_001122757.2:c.157T>G NP_001116229.1:p.Ser53Ala
NM_000306.4:c.143-64T>G MANE Select NP_000297.1:n.143-64T>G
NM_001122757.3:c.157T>G NP_001116229.1:p.Ser53Ala
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