Canonical Allele Identifier: CA361620116

Gene: POU4F3

Linked Data

• dbSNP Id: rs1299976035
• gnomAD v2: 5-145719139-A-G
• gnomAD v4: 5-146339576-A-G
• MyVariant Identifiers: chr5:g.145719139A>G (hg19) ; chr5:g.146339576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146339576A>G , CM000667.2:g.146339576A>G	GRCh38
NC_000005.9:g.145719139A>G , CM000667.1:g.145719139A>G	GRCh37
NC_000005.8:g.145699332A>G	NCBI36
NG_011885.1:g.5553A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.149A>G MANE Select	ENSP00000495718.1:p.Asp50Gly
ENST00000230732.4:c.149A>G	ENSP00000230732.4:p.Asp50Gly
NM_002700.2:c.149A>G	NP_002691.1:p.Asp50Gly
NM_002700.3:c.149A>G MANE Select	NP_002691.1:p.Asp50Gly