Canonical Allele Identifier: CA1381563684
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs1706468029
gnomAD v4: 3-87259704-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259704A>G , CM000665.2:g.87259704A>G GRCh38
NC_000003.11:g.87308854A>G , CM000665.1:g.87308854A>G GRCh37
NC_000003.10:g.87391544A>G NCBI36
NG_008225.2:g.21884T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*190T>C ENSP00000342931.3:n.*190T>C
ENST00000350375.7:c.*190T>C MANE Select ENSP00000263781.2:n.*190T>C
ENST00000350375.6:c.*190T>C ENSP00000263781.2:n.*190T>C
NM_000306.3:c.*190T>C NP_000297.1:n.*190T>C
NM_001122757.2:c.*190T>C NP_001116229.1:n.*190T>C
NM_000306.4:c.*190T>C MANE Select NP_000297.1:n.*190T>C
NM_001122757.3:c.*190T>C NP_001116229.1:n.*190T>C
Search 100 bp 5'
Search 100 bp 3'