Canonical Allele Identifier: CA386388104
Community Standard Title: NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val)
Gene: POLR3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106427219A>T , CM000674.2:g.106427219A>T GRCh38
NC_000012.11:g.106820997A>T , CM000674.1:g.106820997A>T GRCh37
NC_000012.10:g.105345127A>T NCBI36
NG_031837.1:g.74562A>T

Transcript Alleles

HGVS Amino-acid Change
NM_018082.6:c.1124A>T MANE Select NP_060552.4:p.Asp375Val
ENST00000228347.9:c.1124A>T MANE Select ENSP00000228347.4:p.Asp375Val
NM_001160708.1:c.950A>T NP_001154180.1:p.Asp317Val
NM_001160708.2:c.950A>T NP_001154180.1:p.Asp317Val
NM_018082.5:c.1124A>T NP_060552.4:p.Asp375Val
ENST00000228347.8:c.1124A>T ENSP00000228347.4:p.Asp375Val
ENST00000539066.5:c.950A>T ENSP00000445721.1:p.Asp317Val
ENST00000549195.1:n.534A>T
ENST00000549569.1:c.398A>T ENSP00000448398.1:p.Asp133Val
XM_017019621.2:c.1124A>T XP_016875110.1:p.Asp375Val