Canonical Allele Identifier: CA361620601
Gene: POU4F3 HGNC NCBI

Linked Data

gnomAD v4: 5-146339816-G-A
MyVariant Identifiers: chr5:g.145719379G>A (hg19) chr5:g.146339816G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339816G>A , CM000667.2:g.146339816G>A GRCh38
NC_000005.9:g.145719379G>A , CM000667.1:g.145719379G>A GRCh37
NC_000005.8:g.145699572G>A NCBI36
NG_011885.1:g.5793G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.389G>A MANE Select ENSP00000495718.1:p.Ser130Asn
ENST00000230732.4:c.389G>A ENSP00000230732.4:p.Ser130Asn
NM_002700.2:c.389G>A NP_002691.1:p.Ser130Asn
NM_002700.3:c.389G>A MANE Select NP_002691.1:p.Ser130Asn
Search 100 bp 5'
Search 100 bp 3'