Canonical Allele Identifier: CA361620249
Gene: POU4F3 HGNC NCBI

Linked Data

gnomAD v4: 5-146339642-A-T
MyVariant Identifiers: chr5:g.145719205A>T (hg19) chr5:g.146339642A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339642A>T , CM000667.2:g.146339642A>T GRCh38
NC_000005.9:g.145719205A>T , CM000667.1:g.145719205A>T GRCh37
NC_000005.8:g.145699398A>T NCBI36
NG_011885.1:g.5619A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.215A>T MANE Select ENSP00000495718.1:p.His72Leu
ENST00000230732.4:c.215A>T ENSP00000230732.4:p.His72Leu
NM_002700.2:c.215A>T NP_002691.1:p.His72Leu
NM_002700.3:c.215A>T MANE Select NP_002691.1:p.His72Leu
Search 100 bp 5'
Search 100 bp 3'