Canonical Allele Identifier: CA377347012

Gene: POLR3A

Linked Data

• dbSNP Id: rs772321979
• gnomAD v3: 10-78025100-C-G
• gnomAD v4: 10-78025100-C-G
• MyVariant Identifiers: chr10:g.79784858C>G (hg19) ; chr10:g.78025100C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78025100C>G , CM000672.2:g.78025100C>G	GRCh38
NC_000010.10:g.79784858C>G , CM000672.1:g.79784858C>G	GRCh37
NC_000010.9:g.79454864C>G	NCBI36
NG_029648.1:g.9441G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698729.1:n.469G>C
ENST00000698730.1:n.469G>C
ENST00000698731.1:c.361G>C	ENSP00000513898.1:p.Glu121Gln
ENST00000698732.1:c.361G>C	ENSP00000513899.1:p.Glu121Gln
ENST00000698733.1:c.361G>C	ENSP00000513900.1:p.Glu121Gln
ENST00000698734.1:c.361G>C	ENSP00000513901.1:p.Glu121Gln
ENST00000698735.1:n.476G>C
ENST00000698736.1:n.476G>C
ENST00000698737.1:n.476G>C
ENST00000698738.1:n.476G>C
ENST00000698739.1:n.476G>C
ENST00000372371.8:c.361G>C MANE Select	ENSP00000361446.3:p.Glu121Gln
ENST00000372371.7:c.361G>C	ENSP00000361446.3:p.Glu121Gln
NM_007055.3:c.361G>C	NP_008986.2:p.Glu121Gln
NM_007055.4:c.361G>C MANE Select	NP_008986.2:p.Glu121Gln