Canonical Allele Identifier: CA2615915597

Gene: POU2AF1

Linked Data

• gnomAD v4: 11-111352391-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111352391C>A , CM000673.2:g.111352391C>A	GRCh38
NC_000011.9:g.111223116C>A , CM000673.1:g.111223116C>A	GRCh37
NC_000011.8:g.110728326C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393067.8:c.*1870G>T MANE Select	ENSP00000376786.3:n.*1870G>T
ENST00000393067.7:c.*1870G>T	ENSP00000376786.3:n.*1870G>T
NM_006235.2:c.*1870G>T	NP_006226.2:n.*1870G>T
XM_005271593.1:c.*1870G>T	XP_005271650.1:n.*1870G>T
XM_005271594.3:c.*1870G>T	XP_005271651.1:n.*1870G>T
XM_006718859.1:c.*1870G>T	XP_006718922.1:n.*1870G>T
XM_005271593.2:c.*1870G>T	XP_005271650.1:n.*1870G>T
XM_006718860.4:c.*4025G>T	XP_006718923.1:n.*4025G>T
XM_017017932.1:c.*4025G>T	XP_016873421.1:n.*4025G>T
NM_006235.3:c.*1870G>T MANE Select	NP_006226.2:n.*1870G>T