Canonical Allele Identifier: CA361620559
Gene: POU4F3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339794A>C , CM000667.2:g.146339794A>C GRCh38
NC_000005.9:g.145719357A>C , CM000667.1:g.145719357A>C GRCh37
NC_000005.8:g.145699550A>C NCBI36
NG_011885.1:g.5771A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.367A>C MANE Select ENSP00000495718.1:p.Ile123Leu
ENST00000230732.4:c.367A>C ENSP00000230732.4:p.Ile123Leu
NM_002700.2:c.367A>C NP_002691.1:p.Ile123Leu
NM_002700.3:c.367A>C MANE Select NP_002691.1:p.Ile123Leu