Canonical Allele Identifier: CA386387579

Gene: POLR3B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.106410946G>A , CM000674.2:g.106410946G>A	GRCh38
NC_000012.11:g.106804724G>A , CM000674.1:g.106804724G>A	GRCh37
NC_000012.10:g.105328854G>A	NCBI36
NG_031837.1:g.58289G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018082.6:c.1087G>A MANE Select	NP_060552.4:p.Glu363Lys
ENST00000228347.9:c.1087G>A MANE Select	ENSP00000228347.4:p.Glu363Lys
NM_001160708.1:c.913G>A	NP_001154180.1:p.Glu305Lys
NM_001160708.2:c.913G>A	NP_001154180.1:p.Glu305Lys
NM_018082.5:c.1087G>A	NP_060552.4:p.Glu363Lys
ENST00000228347.8:c.1087G>A	ENSP00000228347.4:p.Glu363Lys
ENST00000539066.5:c.913G>A	ENSP00000445721.1:p.Glu305Lys
ENST00000549195.1:n.497G>A
ENST00000549569.1:c.361G>A	ENSP00000448398.1:p.Glu121Lys
XM_017019621.2:c.1087G>A	XP_016875110.1:p.Glu363Lys