Canonical Allele Identifier: CA594433463

Gene: POLR3A

Linked Data

• dbSNP Id: rs377628501
• gnomAD v2: 10-79761913-C-A
• gnomAD v3: 10-78002155-C-A
• gnomAD v4: 10-78002155-C-A
• MyVariant Identifiers: chr10:g.79761913C>A (hg19) ; chr10:g.78002155C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78002155C>A , CM000672.2:g.78002155C>A	GRCh38
NC_000010.10:g.79761913C>A , CM000672.1:g.79761913C>A	GRCh37
NC_000010.9:g.79431919C>A	NCBI36
NG_029648.1:g.32386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1419+42G>T
ENST00000698728.1:n.1938+42G>T
ENST00000698729.1:n.3484+42G>T
ENST00000698730.1:n.3484+42G>T
ENST00000698731.1:c.2218+42G>T	ENSP00000513898.1:n.2218+42G>T
ENST00000698732.1:c.*1220+42G>T	ENSP00000513899.1:n.*1220+42G>T
ENST00000698733.1:c.*1546+42G>T	ENSP00000513900.1:n.*1546+42G>T
ENST00000698734.1:c.2359+42G>T	ENSP00000513901.1:n.2359+42G>T
ENST00000698735.1:n.2474+42G>T
ENST00000698736.1:n.2474+42G>T
ENST00000698737.1:n.2474+42G>T
ENST00000698738.1:n.2474+42G>T
ENST00000698739.1:n.2474+42G>T
ENST00000372371.8:c.2359+42G>T MANE Select	ENSP00000361446.3:n.2359+42G>T
ENST00000372371.7:c.2359+42G>T	ENSP00000361446.3:n.2359+42G>T
ENST00000472014.5:n.469+2561G>T
NM_007055.3:c.2359+42G>T	NP_008986.2:n.2359+42G>T
NM_007055.4:c.2359+42G>T MANE Select	NP_008986.2:n.2359+42G>T