Canonical Allele Identifier: CA377325948

Gene: POLR3A

Linked Data

• dbSNP Id: rs1397746244
• gnomAD v2: 10-79739911-C-A
• gnomAD v4: 10-77980153-C-A
• MyVariant Identifiers: chr10:g.79739911C>A (hg19) ; chr10:g.77980153C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980153C>A , CM000672.2:g.77980153C>A	GRCh38
NC_000010.10:g.79739911C>A , CM000672.1:g.79739911C>A	GRCh37
NC_000010.9:g.79409917C>A	NCBI36
NG_029648.1:g.54388G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1929G>T
ENST00000698725.1:n.1682G>T
ENST00000698726.1:n.3242G>T
ENST00000698727.1:n.2975G>T
ENST00000698728.1:n.3591G>T
ENST00000698729.1:n.5039G>T
ENST00000698730.1:n.5137G>T
ENST00000698731.1:c.3871G>T	ENSP00000513898.1:p.Asp1291Tyr
ENST00000698732.1:c.*2701G>T	ENSP00000513899.1:n.*2701G>T
ENST00000698733.1:c.*3199G>T	ENSP00000513900.1:n.*3199G>T
ENST00000698734.1:c.*2185G>T	ENSP00000513901.1:n.*2185G>T
ENST00000698735.1:n.4363G>T
ENST00000698736.1:n.4776G>T
ENST00000698737.1:n.4127G>T
ENST00000372371.8:c.4012G>T MANE Select	ENSP00000361446.3:p.Asp1338Tyr
ENST00000372371.7:c.4012G>T	ENSP00000361446.3:p.Asp1338Tyr
ENST00000616246.4:c.460G>T	ENSP00000483738.1:p.Asp154Tyr
NM_007055.3:c.4012G>T	NP_008986.2:p.Asp1338Tyr
NM_007055.4:c.4012G>T MANE Select	NP_008986.2:p.Asp1338Tyr