Canonical Allele Identifier: CA377326213
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77980267C>A , CM000672.2:g.77980267C>A GRCh38
NC_000010.10:g.79740025C>A , CM000672.1:g.79740025C>A GRCh37
NC_000010.9:g.79410031C>A NCBI36
NG_029648.1:g.54274G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698724.1:n.1815G>T
ENST00000698725.1:n.1568G>T
ENST00000698726.1:n.3128G>T
ENST00000698727.1:n.2861G>T
ENST00000698728.1:n.3477G>T
ENST00000698729.1:n.4925G>T
ENST00000698730.1:n.5023G>T
ENST00000698731.1:c.3757G>T ENSP00000513898.1:p.Val1253Phe
ENST00000698732.1:c.*2587G>T ENSP00000513899.1:n.*2587G>T
ENST00000698733.1:c.*3085G>T ENSP00000513900.1:n.*3085G>T
ENST00000698734.1:c.*2071G>T ENSP00000513901.1:n.*2071G>T
ENST00000698735.1:n.4249G>T
ENST00000698736.1:n.4662G>T
ENST00000698737.1:n.4013G>T
ENST00000372371.8:c.3898G>T MANE Select ENSP00000361446.3:p.Val1300Phe
ENST00000372371.7:c.3898G>T ENSP00000361446.3:p.Val1300Phe
ENST00000616246.4:c.346G>T ENSP00000483738.1:p.Val116Phe
NM_007055.3:c.3898G>T NP_008986.2:p.Val1300Phe
NM_007055.4:c.3898G>T MANE Select NP_008986.2:p.Val1300Phe