Canonical Allele Identifier: CA397796589
Gene: POLR2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502625G>C , CM000679.2:g.7502625G>C GRCh38
NC_000017.10:g.7405944G>C , CM000679.1:g.7405944G>C GRCh37
NC_000017.9:g.7346668G>C NCBI36
NG_027747.1:g.23247G>C
NG_027747.2:g.23247G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000617998.6:n.3079G>C
ENST00000674977.2:c.2680G>C ENSP00000502190.2:p.Asp894His
ENST00000576114.1:n.146G>C
ENST00000617998.4:c.2680G>C ENSP00000480158.1:p.Asp894His
ENST00000621442.4:c.2680G>C ENSP00000483957.1:p.Asp894His
NM_000937.4:c.2680G>C NP_000928.1:p.Asp894His
NM_000937.5:c.2680G>C MANE Select NP_000928.1:p.Asp894His