Canonical Allele Identifier: CA882712856
Gene: POLR1G HGNC NCBI

Linked Data

dbSNP Id: rs1475445563
gnomAD v3: 19-45407318-G-A
gnomAD v4: 19-45407318-G-A
MyVariant Identifiers: chr19:g.45910576G>A (hg19) chr19:g.45407318G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45407318G>A , CM000681.2:g.45407318G>A GRCh38
NC_000019.9:g.45910576G>A , CM000681.1:g.45910576G>A GRCh37
NC_000019.8:g.50602416G>A NCBI36
NG_015839.2:g.76511C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000309424.8:c.164+83G>A MANE Select ENSP00000310966.3:n.164+83G>A
ENST00000309424.7:c.164+83G>A ENSP00000310966.3:n.164+83G>A
ENST00000589804.1:c.170+83G>A ENSP00000465099.1:n.170+83G>A
ENST00000590794.1:c.20+600G>A
ENST00000592852.1:c.-371+83G>A ENSP00000467771.1:n.-371+83G>A
NM_001297590.1:c.170+83G>A NP_001284519.1:n.170+83G>A
NM_012099.1:c.164+83G>A NP_036231.1:n.164+83G>A
NM_001297590.2:c.170+83G>A NP_001284519.1:n.170+83G>A
NM_012099.2:c.164+83G>A NP_036231.1:n.164+83G>A
NM_001297590.3:c.170+83G>A NP_001284519.1:n.170+83G>A
NM_012099.3:c.164+83G>A MANE Select NP_036231.1:n.164+83G>A
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