Canonical Allele Identifier: CA228500293

Gene: POU2AF1

Linked Data

• dbSNP Id: rs919452105
• gnomAD v3: 11-111352404-A-G
• gnomAD v4: 11-111352404-A-G
• MyVariant Identifiers: chr11:g.111223129A>G (hg19) ; chr11:g.111352404A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111352404A>G , CM000673.2:g.111352404A>G	GRCh38
NC_000011.9:g.111223129A>G , CM000673.1:g.111223129A>G	GRCh37
NC_000011.8:g.110728339A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393067.8:c.*1857T>C MANE Select	ENSP00000376786.3:n.*1857T>C
ENST00000393067.7:c.*1857T>C	ENSP00000376786.3:n.*1857T>C
NM_006235.2:c.*1857T>C	NP_006226.2:n.*1857T>C
XM_005271593.1:c.*1857T>C	XP_005271650.1:n.*1857T>C
XM_005271594.3:c.*1857T>C	XP_005271651.1:n.*1857T>C
XM_006718859.1:c.*1857T>C	XP_006718922.1:n.*1857T>C
XM_005271593.2:c.*1857T>C	XP_005271650.1:n.*1857T>C
XM_006718860.4:c.*4012T>C	XP_006718923.1:n.*4012T>C
XM_017017932.1:c.*4012T>C	XP_016873421.1:n.*4012T>C
NM_006235.3:c.*1857T>C MANE Select	NP_006226.2:n.*1857T>C