Canonical Allele Identifier: CA377340960

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 2996417
• ClinVar RCV Id: RCV003856568
• MyVariant Identifiers: chr10:g.79769654T>A (hg19) ; chr10:g.78009896T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009896T>A , CM000672.2:g.78009896T>A	GRCh38
NC_000010.10:g.79769654T>A , CM000672.1:g.79769654T>A	GRCh37
NC_000010.9:g.79439660T>A	NCBI36
NG_029648.1:g.24645A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1317A>T
ENST00000698729.1:n.2863A>T
ENST00000698730.1:n.2863A>T
ENST00000698731.1:c.1597A>T	ENSP00000513898.1:p.Lys533Ter
ENST00000698732.1:c.*599A>T	ENSP00000513899.1:n.*599A>T
ENST00000698733.1:c.*925A>T	ENSP00000513900.1:n.*925A>T
ENST00000698734.1:c.1738A>T	ENSP00000513901.1:p.Lys580Ter
ENST00000698735.1:n.1853A>T
ENST00000698736.1:n.1853A>T
ENST00000698737.1:n.1853A>T
ENST00000698738.1:n.1853A>T
ENST00000698739.1:n.1853A>T
ENST00000372371.8:c.1738A>T MANE Select	ENSP00000361446.3:p.Lys580Ter
ENST00000372371.7:c.1738A>T	ENSP00000361446.3:p.Lys580Ter
ENST00000473588.2:c.540A>T
NM_007055.3:c.1738A>T	NP_008986.2:p.Lys580Ter
NM_007055.4:c.1738A>T MANE Select	NP_008986.2:p.Lys580Ter