Canonical Allele Identifier: CA594426157

Gene: POLR3A

Linked Data

• dbSNP Id: rs1469429719
• gnomAD v2: 10-79739864-G-T
• gnomAD v3: 10-77980106-G-T
• gnomAD v4: 10-77980106-G-T
• MyVariant Identifiers: chr10:g.79739864G>T (hg19) ; chr10:g.77980106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980106G>T , CM000672.2:g.77980106G>T	GRCh38
NC_000010.10:g.79739864G>T , CM000672.1:g.79739864G>T	GRCh37
NC_000010.9:g.79409870G>T	NCBI36
NG_029648.1:g.54435C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+35C>A
ENST00000698725.1:n.1694+35C>A
ENST00000698726.1:n.3254+35C>A
ENST00000698727.1:n.2987+35C>A
ENST00000698728.1:n.3603+35C>A
ENST00000698729.1:n.5051+35C>A
ENST00000698730.1:n.5149+35C>A
ENST00000698731.1:c.3883+35C>A	ENSP00000513898.1:n.3883+35C>A
ENST00000698732.1:c.*2713+35C>A	ENSP00000513899.1:n.*2713+35C>A
ENST00000698733.1:c.*3211+35C>A	ENSP00000513900.1:n.*3211+35C>A
ENST00000698734.1:c.*2197+35C>A	ENSP00000513901.1:n.*2197+35C>A
ENST00000698735.1:n.4375+35C>A
ENST00000698736.1:n.4788+35C>A
ENST00000698737.1:n.4174C>A
ENST00000372371.8:c.4024+35C>A MANE Select	ENSP00000361446.3:n.4024+35C>A
ENST00000372371.7:c.4024+35C>A	ENSP00000361446.3:n.4024+35C>A
ENST00000616246.4:c.472+35C>A	ENSP00000483738.1:n.472+35C>A
NM_007055.3:c.4024+35C>A	NP_008986.2:n.4024+35C>A
NM_007055.4:c.4024+35C>A MANE Select	NP_008986.2:n.4024+35C>A