Canonical Allele Identifier: CA377341156
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009973A>G , CM000672.2:g.78009973A>G GRCh38
NC_000010.10:g.79769731A>G , CM000672.1:g.79769731A>G GRCh37
NC_000010.9:g.79439737A>G NCBI36
NG_029648.1:g.24568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1240T>C
ENST00000698729.1:n.2786T>C
ENST00000698730.1:n.2786T>C
ENST00000698731.1:c.1520T>C ENSP00000513898.1:p.Leu507Pro
ENST00000698732.1:c.*522T>C ENSP00000513899.1:n.*522T>C
ENST00000698733.1:c.*848T>C ENSP00000513900.1:n.*848T>C
ENST00000698734.1:c.1661T>C ENSP00000513901.1:p.Leu554Pro
ENST00000698735.1:n.1776T>C
ENST00000698736.1:n.1776T>C
ENST00000698737.1:n.1776T>C
ENST00000698738.1:n.1776T>C
ENST00000698739.1:n.1776T>C
ENST00000372371.8:c.1661T>C MANE Select ENSP00000361446.3:p.Leu554Pro
ENST00000372371.7:c.1661T>C ENSP00000361446.3:p.Leu554Pro
ENST00000473588.2:c.463T>C
NM_007055.3:c.1661T>C NP_008986.2:p.Leu554Pro
NM_007055.4:c.1661T>C MANE Select NP_008986.2:p.Leu554Pro