Canonical Allele Identifier: CA930227836

Gene: POLR3A

Linked Data

• dbSNP Id: rs1003959675
• gnomAD v3: 10-78010048-G-T
• gnomAD v4: 10-78010048-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78010048G>T , CM000672.2:g.78010048G>T	GRCh38
NC_000010.10:g.79769806G>T , CM000672.1:g.79769806G>T	GRCh37
NC_000010.9:g.79439812G>T	NCBI36
NG_029648.1:g.24493C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1222-57C>A
ENST00000698729.1:n.2768-57C>A
ENST00000698730.1:n.2768-57C>A
ENST00000698731.1:c.1502-57C>A	ENSP00000513898.1:n.1502-57C>A
ENST00000698732.1:c.*504-57C>A	ENSP00000513899.1:n.*504-57C>A
ENST00000698733.1:c.*830-57C>A	ENSP00000513900.1:n.*830-57C>A
ENST00000698734.1:c.1643-57C>A	ENSP00000513901.1:n.1643-57C>A
ENST00000698735.1:n.1758-57C>A
ENST00000698736.1:n.1758-57C>A
ENST00000698737.1:n.1758-57C>A
ENST00000698738.1:n.1758-57C>A
ENST00000698739.1:n.1758-57C>A
ENST00000372371.8:c.1643-57C>A MANE Select	ENSP00000361446.3:n.1643-57C>A
ENST00000372371.7:c.1643-57C>A	ENSP00000361446.3:n.1643-57C>A
ENST00000473588.2:c.445-57C>A
NM_007055.3:c.1643-57C>A	NP_008986.2:n.1643-57C>A
NM_007055.4:c.1643-57C>A MANE Select	NP_008986.2:n.1643-57C>A