Canonical Allele Identifier: CA497702899
Gene: POLR2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7406012T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502693T>C , CM000679.2:g.7502693T>C GRCh38
NC_000017.10:g.7406012T>C , CM000679.1:g.7406012T>C GRCh37
NC_000017.9:g.7346736T>C NCBI36
NG_027747.1:g.23315T>C
NG_027747.2:g.23315T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3147T>C
ENST00000674977.2:c.2748T>C ENSP00000502190.2:p.Phe916=
ENST00000576114.1:n.214T>C
ENST00000617998.4:c.2748T>C ENSP00000480158.1:p.Phe916=
ENST00000621442.4:c.2748T>C ENSP00000483957.1:p.Phe916=
NM_000937.4:c.2748T>C NP_000928.1:p.Phe916=
NM_000937.5:c.2748T>C MANE Select NP_000928.1:p.Phe916=
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