Canonical Allele Identifier: CA397796569
Gene: POLR2A HGNC NCBI

Linked Data

gnomAD v4: 17-7502622-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502622G>A , CM000679.2:g.7502622G>A GRCh38
NC_000017.10:g.7405941G>A , CM000679.1:g.7405941G>A GRCh37
NC_000017.9:g.7346665G>A NCBI36
NG_027747.1:g.23244G>A
NG_027747.2:g.23244G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000617998.6:n.3076G>A
ENST00000674977.2:c.2677G>A ENSP00000502190.2:p.Glu893Lys
ENST00000576114.1:n.143G>A
ENST00000617998.4:c.2677G>A ENSP00000480158.1:p.Glu893Lys
ENST00000621442.4:c.2677G>A ENSP00000483957.1:p.Glu893Lys
NM_000937.4:c.2677G>A NP_000928.1:p.Glu893Lys
NM_000937.5:c.2677G>A MANE Select NP_000928.1:p.Glu893Lys