Canonical Allele Identifier: CA9514846
Gene: POLR1G HGNC NCBI
COSMIC:
COSN8407656 (not active)
MyVariant.info:
GRCh38 chr19:g.45406676G>A
GRCh37 chr19:g.45909934G>A
gnomAD v2:
19:45909934 G / A
gnomAD v3:
19:45406676 G / A
gnomAD v4:
chr19-45406676-G-A
Joint Max Group AF 0.45001221 (EAS)
Genomes Max Group AF 0.42882062 (EAS)
Exomes Max Group AF 0.45133882 (EAS)
dbSNP:
967591
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45406676G>A , CM000681.2:g.45406676G>A GRCh38
NC_000019.9:g.45909934G>A , CM000681.1:g.45909934G>A GRCh37
NC_000019.8:g.50601774G>A NCBI36
NG_015839.2:g.77153C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.-21G>A MANE Select ENSP00000310966.3:n.-21G>A
ENST00000309424.7:c.-21G>A ENSP00000310966.3:n.-21G>A
ENST00000592852.1:c.-930G>A ENSP00000467771.1:n.-930G>A
NM_001297590.1:c.-21G>A NP_001284519.1:n.-21G>A
NM_012099.1:c.-21G>A NP_036231.1:n.-21G>A
NM_001297590.2:c.-21G>A NP_001284519.1:n.-21G>A
NM_012099.2:c.-21G>A NP_036231.1:n.-21G>A
NM_001297590.3:c.-21G>A NP_001284519.1:n.-21G>A
NM_012099.3:c.-21G>A MANE Select NP_036231.1:n.-21G>A
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