Canonical Allele Identifier: CA397796859
Gene: POLR2A HGNC NCBI

Linked Data

gnomAD v4: 17-7502660-C-G
MyVariant Identifiers: chr17:g.7405979C>G (hg19) chr17:g.7502660C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502660C>G , CM000679.2:g.7502660C>G GRCh38
NC_000017.10:g.7405979C>G , CM000679.1:g.7405979C>G GRCh37
NC_000017.9:g.7346703C>G NCBI36
NG_027747.1:g.23282C>G
NG_027747.2:g.23282C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3114C>G
ENST00000674977.2:c.2715C>G ENSP00000502190.2:p.Asn905Lys
ENST00000576114.1:n.181C>G
ENST00000617998.4:c.2715C>G ENSP00000480158.1:p.Asn905Lys
ENST00000621442.4:c.2715C>G ENSP00000483957.1:p.Asn905Lys
NM_000937.4:c.2715C>G NP_000928.1:p.Asn905Lys
NM_000937.5:c.2715C>G MANE Select NP_000928.1:p.Asn905Lys
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