Canonical Allele Identifier: CA942225236

Gene: POU2AF1

Linked Data

• dbSNP Id: rs1860741387
• gnomAD v3: 11-111352395-G-T
• gnomAD v4: 11-111352395-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111352395G>T , CM000673.2:g.111352395G>T	GRCh38
NC_000011.9:g.111223120G>T , CM000673.1:g.111223120G>T	GRCh37
NC_000011.8:g.110728330G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393067.8:c.*1866C>A MANE Select	ENSP00000376786.3:n.*1866C>A
ENST00000393067.7:c.*1866C>A	ENSP00000376786.3:n.*1866C>A
NM_006235.2:c.*1866C>A	NP_006226.2:n.*1866C>A
XM_005271593.1:c.*1866C>A	XP_005271650.1:n.*1866C>A
XM_005271594.3:c.*1866C>A	XP_005271651.1:n.*1866C>A
XM_006718859.1:c.*1866C>A	XP_006718922.1:n.*1866C>A
XM_005271593.2:c.*1866C>A	XP_005271650.1:n.*1866C>A
XM_006718860.4:c.*4021C>A	XP_006718923.1:n.*4021C>A
XM_017017932.1:c.*4021C>A	XP_016873421.1:n.*4021C>A
NM_006235.3:c.*1866C>A MANE Select	NP_006226.2:n.*1866C>A