Canonical Allele Identifier: CA406345477
Gene: POLR1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45407216G>C , CM000681.2:g.45407216G>C GRCh38
NC_000019.9:g.45910474G>C , CM000681.1:g.45910474G>C GRCh37
NC_000019.8:g.50602314G>C NCBI36
NG_015839.2:g.76613C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.145G>C MANE Select ENSP00000310966.3:p.Ala49Pro
ENST00000309424.7:c.145G>C ENSP00000310966.3:p.Ala49Pro
ENST00000589804.1:c.151G>C ENSP00000465099.1:p.Ala51Pro
ENST00000590794.1:c.20+498G>C
ENST00000592852.1:c.-390G>C ENSP00000467771.1:n.-390G>C
NM_001297590.1:c.151G>C NP_001284519.1:p.Ala51Pro
NM_012099.1:c.145G>C NP_036231.1:p.Ala49Pro
NM_001297590.2:c.151G>C NP_001284519.1:p.Ala51Pro
NM_012099.2:c.145G>C NP_036231.1:p.Ala49Pro
NM_001297590.3:c.151G>C NP_001284519.1:p.Ala51Pro
NM_012099.3:c.145G>C MANE Select NP_036231.1:p.Ala49Pro