Canonical Allele Identifier: CA406345526
Gene: POLR1G HGNC NCBI

Linked Data

dbSNP Id: rs1457284713

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45407237T>G , CM000681.2:g.45407237T>G GRCh38
NC_000019.9:g.45910495T>G , CM000681.1:g.45910495T>G GRCh37
NC_000019.8:g.50602335T>G NCBI36
NG_015839.2:g.76592A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.164+2T>G MANE Select ENSP00000310966.3:n.164+2T>G
ENST00000309424.7:c.164+2T>G ENSP00000310966.3:n.164+2T>G
ENST00000589804.1:c.170+2T>G ENSP00000465099.1:n.170+2T>G
ENST00000590794.1:c.20+519T>G
ENST00000592852.1:c.-371+2T>G ENSP00000467771.1:n.-371+2T>G
NM_001297590.1:c.170+2T>G NP_001284519.1:n.170+2T>G
NM_012099.1:c.164+2T>G NP_036231.1:n.164+2T>G
NM_001297590.2:c.170+2T>G NP_001284519.1:n.170+2T>G
NM_012099.2:c.164+2T>G NP_036231.1:n.164+2T>G
NM_001297590.3:c.170+2T>G NP_001284519.1:n.170+2T>G
NM_012099.3:c.164+2T>G MANE Select NP_036231.1:n.164+2T>G