Canonical Allele Identifier: CA2585795841
Gene: POLR1G HGNC NCBI

Linked Data

gnomAD v4: 19-45407318-G-C
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Genomic Alleles

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

Transcript Alleles

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