Canonical Allele Identifier: CA361622179

Gene: POU4F3

Linked Data

• MyVariant Identifiers: chr5:g.145719745T>A (hg19) ; chr5:g.146340182T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340182T>A , CM000667.2:g.146340182T>A	GRCh38
NC_000005.9:g.145719745T>A , CM000667.1:g.145719745T>A	GRCh37
NC_000005.8:g.145699938T>A	NCBI36
NG_011885.1:g.6159T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.755T>A MANE Select	ENSP00000495718.1:p.Leu252Ter
ENST00000230732.4:c.755T>A	ENSP00000230732.4:p.Leu252Ter
NM_002700.2:c.755T>A	NP_002691.1:p.Leu252Ter
NM_002700.3:c.755T>A MANE Select	NP_002691.1:p.Leu252Ter