Canonical Allele Identifier: CA377340952

Gene: POLR3A

Linked Data

• MyVariant Identifiers: chr10:g.79769651C>A (hg19) ; chr10:g.78009893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009893C>A , CM000672.2:g.78009893C>A	GRCh38
NC_000010.10:g.79769651C>A , CM000672.1:g.79769651C>A	GRCh37
NC_000010.9:g.79439657C>A	NCBI36
NG_029648.1:g.24648G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1320G>T
ENST00000698729.1:n.2866G>T
ENST00000698730.1:n.2866G>T
ENST00000698731.1:c.1600G>T	ENSP00000513898.1:p.Val534Phe
ENST00000698732.1:c.*602G>T	ENSP00000513899.1:n.*602G>T
ENST00000698733.1:c.*928G>T	ENSP00000513900.1:n.*928G>T
ENST00000698734.1:c.1741G>T	ENSP00000513901.1:p.Val581Phe
ENST00000698735.1:n.1856G>T
ENST00000698736.1:n.1856G>T
ENST00000698737.1:n.1856G>T
ENST00000698738.1:n.1856G>T
ENST00000698739.1:n.1856G>T
ENST00000372371.8:c.1741G>T MANE Select	ENSP00000361446.3:p.Val581Phe
ENST00000372371.7:c.1741G>T	ENSP00000361446.3:p.Val581Phe
ENST00000473588.2:c.543G>T
NM_007055.3:c.1741G>T	NP_008986.2:p.Val581Phe
NM_007055.4:c.1741G>T MANE Select	NP_008986.2:p.Val581Phe