Canonical Allele Identifier: CA6927254

Gene: POLR1D

Linked Data

• ClinVar Variation Id: 3058432
• ClinVar RCV Id: RCV003977008
• dbSNP Id: rs151041219
• ExAC: 13:28197051 G / A
• gnomAD v2: 13-28197051-G-A
• gnomAD v3: 13-27622914-G-A
• gnomAD v4: 13-27622914-G-A
• MyVariant Identifiers: chr13:g.28197051G>A (hg19) ; chr13:g.27622914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27622914G>A , CM000675.2:g.27622914G>A	GRCh38
NC_000013.10:g.28197051G>A , CM000675.1:g.28197051G>A	GRCh37
NC_000013.9:g.27095051G>A	NCBI36
NG_028908.1:g.7172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636952.2:c.26+905G>A	ENSP00000508561.1:n.26+905G>A
ENST00000685267.1:c.26+905G>A	ENSP00000508576.1:n.26+905G>A
ENST00000692944.1:c.26+905G>A	ENSP00000510286.1:n.26+905G>A
ENST00000693488.1:c.-59+1477G>A	ENSP00000508846.1:n.-59+1477G>A
ENST00000302979.5:c.66G>A MANE Select	ENSP00000302478.4:p.Glu22=
ENST00000636817.1:c.26+905G>A	ENSP00000490310.1:n.26+905G>A
ENST00000637071.1:c.-84+905G>A	ENSP00000489713.1:n.-84+905G>A
ENST00000637180.1:c.-59+1477G>A	ENSP00000490619.1:n.-59+1477G>A
ENST00000637389.1:n.71+1651G>A
ENST00000302979.4:c.66G>A	ENSP00000302478.3:p.Glu22=
ENST00000399696.3:c.15G>A	ENSP00000382603.2:p.Glu5=
ENST00000399697.7:c.26+905G>A	ENSP00000382604.3:n.26+905G>A
ENST00000465887.2:c.26+905G>A	ENSP00000487057.1:n.26+905G>A
ENST00000489647.4:c.26+905G>A	ENSP00000483656.1:n.26+905G>A
ENST00000621089.2:c.-59+1774G>A	ENSP00000478213.1:n.-59+1774G>A
ENST00000627604.1:c.-59+1477G>A	ENSP00000486327.1:n.-59+1477G>A
ENST00000630983.1:c.26+905G>A	ENSP00000486928.1:n.26+905G>A
NM_001206559.1:c.-59+1774G>A	NP_001193488.1:n.-59+1774G>A
NM_015972.3:c.66G>A	NP_057056.1:p.Glu22=
NM_152705.2:c.26+905G>A	NP_689918.1:n.26+905G>A
XM_005266412.1:c.66G>A	XP_005266469.1:p.Glu22=
XM_005266414.1:c.26+905G>A	XP_005266471.1:n.26+905G>A
XM_005266412.2:c.66G>A	XP_005266469.1:p.Glu22=
NM_001206559.2:c.-59+1774G>A	NP_001193488.1:n.-59+1774G>A
NM_001374407.1:c.66G>A	NP_001361336.1:p.Glu22=
NM_015972.4:c.66G>A MANE Select	NP_057056.1:p.Glu22=
NM_152705.3:c.26+905G>A	NP_689918.1:n.26+905G>A