Canonical Allele Identifier: CA377341007

Gene: POLR3A

Linked Data

• MyVariant Identifiers: chr10:g.79769675C>A (hg19) ; chr10:g.78009917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009917C>A , CM000672.2:g.78009917C>A	GRCh38
NC_000010.10:g.79769675C>A , CM000672.1:g.79769675C>A	GRCh37
NC_000010.9:g.79439681C>A	NCBI36
NG_029648.1:g.24624G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1296G>T
ENST00000698729.1:n.2842G>T
ENST00000698730.1:n.2842G>T
ENST00000698731.1:c.1576G>T	ENSP00000513898.1:p.Val526Phe
ENST00000698732.1:c.*578G>T	ENSP00000513899.1:n.*578G>T
ENST00000698733.1:c.*904G>T	ENSP00000513900.1:n.*904G>T
ENST00000698734.1:c.1717G>T	ENSP00000513901.1:p.Val573Phe
ENST00000698735.1:n.1832G>T
ENST00000698736.1:n.1832G>T
ENST00000698737.1:n.1832G>T
ENST00000698738.1:n.1832G>T
ENST00000698739.1:n.1832G>T
ENST00000372371.8:c.1717G>T MANE Select	ENSP00000361446.3:p.Val573Phe
ENST00000372371.7:c.1717G>T	ENSP00000361446.3:p.Val573Phe
ENST00000473588.2:c.519G>T
NM_007055.3:c.1717G>T	NP_008986.2:p.Val573Phe
NM_007055.4:c.1717G>T MANE Select	NP_008986.2:p.Val573Phe