Canonical Allele Identifier: CA377334033

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77993238-C-G
• MyVariant Identifiers: chr10:g.79752996C>G (hg19) ; chr10:g.77993238C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77993238C>G , CM000672.2:g.77993238C>G	GRCh38
NC_000010.10:g.79752996C>G , CM000672.1:g.79752996C>G	GRCh37
NC_000010.9:g.79423002C>G	NCBI36
NG_029648.1:g.41303G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.14G>C
ENST00000698727.1:n.1806G>C
ENST00000698728.1:n.2325G>C
ENST00000698729.1:n.3871G>C
ENST00000698730.1:n.3871G>C
ENST00000698731.1:c.2605G>C	ENSP00000513898.1:p.Asp869His
ENST00000698732.1:c.*1607G>C	ENSP00000513899.1:n.*1607G>C
ENST00000698733.1:c.*1933G>C	ENSP00000513900.1:n.*1933G>C
ENST00000698734.1:c.*270G>C	ENSP00000513901.1:n.*270G>C
ENST00000698735.1:n.2861G>C
ENST00000698736.1:n.2861G>C
ENST00000698737.1:n.2861G>C
ENST00000698738.1:n.2861G>C
ENST00000698739.1:n.2861G>C
ENST00000372371.8:c.2746G>C MANE Select	ENSP00000361446.3:p.Asp916His
ENST00000372371.7:c.2746G>C	ENSP00000361446.3:p.Asp916His
ENST00000472014.5:n.599G>C
NM_007055.3:c.2746G>C	NP_008986.2:p.Asp916His
NM_007055.4:c.2746G>C MANE Select	NP_008986.2:p.Asp916His