Canonical Allele Identifier: CA343328
Community Standard Title: NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
Gene: POLR3B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106432421T>A , CM000674.2:g.106432421T>A GRCh38
NC_000012.11:g.106826199T>A , CM000674.1:g.106826199T>A GRCh37
NC_000012.10:g.105350329T>A NCBI36
NG_031837.1:g.79764T>A

Transcript Alleles

HGVS Amino-acid Change
NM_018082.6:c.1568T>A MANE Select NP_060552.4:p.Val523Glu
ENST00000228347.9:c.1568T>A MANE Select ENSP00000228347.4:p.Val523Glu
NM_001160708.1:c.1394T>A NP_001154180.1:p.Val465Glu
NM_001160708.2:c.1394T>A NP_001154180.1:p.Val465Glu
NM_018082.5:c.1568T>A NP_060552.4:p.Val523Glu
ENST00000228347.8:c.1568T>A ENSP00000228347.4:p.Val523Glu
ENST00000539066.5:c.1394T>A ENSP00000445721.1:p.Val465Glu
XM_017019621.2:c.1568T>A XP_016875110.1:p.Val523Glu
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