Canonical Allele Identifier: CA397796240
Gene: POLR2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502539T>G , CM000679.2:g.7502539T>G GRCh38
NC_000017.10:g.7405858T>G , CM000679.1:g.7405858T>G GRCh37
NC_000017.9:g.7346582T>G NCBI36
NG_027747.1:g.23161T>G
NG_027747.2:g.23161T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.2993T>G
ENST00000674977.2:c.2594T>G ENSP00000502190.2:p.Ile865Ser
ENST00000576114.1:n.60T>G
ENST00000617998.4:c.2594T>G ENSP00000480158.1:p.Ile865Ser
ENST00000621442.4:c.2594T>G ENSP00000483957.1:p.Ile865Ser
NM_000937.4:c.2594T>G NP_000928.1:p.Ile865Ser
NM_000937.5:c.2594T>G MANE Select NP_000928.1:p.Ile865Ser