Canonical Allele Identifier: CA406345502
Gene: POLR1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45407226C>T , CM000681.2:g.45407226C>T GRCh38
NC_000019.9:g.45910484C>T , CM000681.1:g.45910484C>T GRCh37
NC_000019.8:g.50602324C>T NCBI36
NG_015839.2:g.76603G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.155C>T MANE Select ENSP00000310966.3:p.Ala52Val
ENST00000309424.7:c.155C>T ENSP00000310966.3:p.Ala52Val
ENST00000589804.1:c.161C>T ENSP00000465099.1:p.Ala54Val
ENST00000590794.1:c.20+508C>T
ENST00000592852.1:c.-380C>T ENSP00000467771.1:n.-380C>T
NM_001297590.1:c.161C>T NP_001284519.1:p.Ala54Val
NM_012099.1:c.155C>T NP_036231.1:p.Ala52Val
NM_001297590.2:c.161C>T NP_001284519.1:p.Ala54Val
NM_012099.2:c.155C>T NP_036231.1:p.Ala52Val
NM_001297590.3:c.161C>T NP_001284519.1:p.Ala54Val
NM_012099.3:c.155C>T MANE Select NP_036231.1:p.Ala52Val