Canonical Allele Identifier: CA210211697

Gene: POLR3A

Linked Data

• dbSNP Id: rs192109770
• gnomAD v2: 10-79769847-A-C
• gnomAD v3: 10-78010089-A-C
• gnomAD v4: 10-78010089-A-C
• MyVariant Identifiers: chr10:g.79769847A>C (hg19) ; chr10:g.78010089A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78010089A>C , CM000672.2:g.78010089A>C	GRCh38
NC_000010.10:g.79769847A>C , CM000672.1:g.79769847A>C	GRCh37
NC_000010.9:g.79439853A>C	NCBI36
NG_029648.1:g.24452T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1222-98T>G
ENST00000698729.1:n.2768-98T>G
ENST00000698730.1:n.2768-98T>G
ENST00000698731.1:c.1502-98T>G	ENSP00000513898.1:n.1502-98T>G
ENST00000698732.1:c.*504-98T>G	ENSP00000513899.1:n.*504-98T>G
ENST00000698733.1:c.*830-98T>G	ENSP00000513900.1:n.*830-98T>G
ENST00000698734.1:c.1643-98T>G	ENSP00000513901.1:n.1643-98T>G
ENST00000698735.1:n.1758-98T>G
ENST00000698736.1:n.1758-98T>G
ENST00000698737.1:n.1758-98T>G
ENST00000698738.1:n.1758-98T>G
ENST00000698739.1:n.1758-98T>G
ENST00000372371.8:c.1643-98T>G MANE Select	ENSP00000361446.3:n.1643-98T>G
ENST00000372371.7:c.1643-98T>G	ENSP00000361446.3:n.1643-98T>G
ENST00000473588.2:c.445-98T>G
NM_007055.3:c.1643-98T>G	NP_008986.2:n.1643-98T>G
NM_007055.4:c.1643-98T>G MANE Select	NP_008986.2:n.1643-98T>G