Canonical Allele Identifier: CA406345518
Gene: POLR1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45407235G>C , CM000681.2:g.45407235G>C GRCh38
NC_000019.9:g.45910493G>C , CM000681.1:g.45910493G>C GRCh37
NC_000019.8:g.50602333G>C NCBI36
NG_015839.2:g.76594C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.164G>C MANE Select ENSP00000310966.3:p.Cys55Ser
ENST00000309424.7:c.164G>C ENSP00000310966.3:p.Cys55Ser
ENST00000589804.1:c.170G>C ENSP00000465099.1:p.Cys57Ser
ENST00000590794.1:c.20+517G>C
ENST00000592852.1:c.-371G>C ENSP00000467771.1:n.-371G>C
NM_001297590.1:c.170G>C NP_001284519.1:p.Cys57Ser
NM_012099.1:c.164G>C NP_036231.1:p.Cys55Ser
NM_001297590.2:c.170G>C NP_001284519.1:p.Cys57Ser
NM_012099.2:c.164G>C NP_036231.1:p.Cys55Ser
NM_001297590.3:c.170G>C NP_001284519.1:p.Cys57Ser
NM_012099.3:c.164G>C MANE Select NP_036231.1:p.Cys55Ser