Canonical Allele Identifier: CA996308607

Gene: POLR1G

Linked Data

• dbSNP Id: rs1765285286
• gnomAD v3: 19-45407268-C-G
• gnomAD v4: 19-45407268-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407268C>G , CM000681.2:g.45407268C>G	GRCh38
NC_000019.9:g.45910526C>G , CM000681.1:g.45910526C>G	GRCh37
NC_000019.8:g.50602366C>G	NCBI36
NG_015839.2:g.76561G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.164+33C>G MANE Select	ENSP00000310966.3:n.164+33C>G
ENST00000309424.7:c.164+33C>G	ENSP00000310966.3:n.164+33C>G
ENST00000589804.1:c.170+33C>G	ENSP00000465099.1:n.170+33C>G
ENST00000590794.1:c.20+550C>G
ENST00000592852.1:c.-371+33C>G	ENSP00000467771.1:n.-371+33C>G
NM_001297590.1:c.170+33C>G	NP_001284519.1:n.170+33C>G
NM_012099.1:c.164+33C>G	NP_036231.1:n.164+33C>G
NM_001297590.2:c.170+33C>G	NP_001284519.1:n.170+33C>G
NM_012099.2:c.164+33C>G	NP_036231.1:n.164+33C>G
NM_001297590.3:c.170+33C>G	NP_001284519.1:n.170+33C>G
NM_012099.3:c.164+33C>G MANE Select	NP_036231.1:n.164+33C>G