Canonical Allele Identifier: CA470398341

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78009972-G-C
• MyVariant Identifiers: chr10:g.79769730G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009972G>C , CM000672.2:g.78009972G>C	GRCh38
NC_000010.10:g.79769730G>C , CM000672.1:g.79769730G>C	GRCh37
NC_000010.9:g.79439736G>C	NCBI36
NG_029648.1:g.24569C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1241C>G
ENST00000698729.1:n.2787C>G
ENST00000698730.1:n.2787C>G
ENST00000698731.1:c.1521C>G	ENSP00000513898.1:p.Leu507=
ENST00000698732.1:c.*523C>G	ENSP00000513899.1:n.*523C>G
ENST00000698733.1:c.*849C>G	ENSP00000513900.1:n.*849C>G
ENST00000698734.1:c.1662C>G	ENSP00000513901.1:p.Leu554=
ENST00000698735.1:n.1777C>G
ENST00000698736.1:n.1777C>G
ENST00000698737.1:n.1777C>G
ENST00000698738.1:n.1777C>G
ENST00000698739.1:n.1777C>G
ENST00000372371.8:c.1662C>G MANE Select	ENSP00000361446.3:p.Leu554=
ENST00000372371.7:c.1662C>G	ENSP00000361446.3:p.Leu554=
ENST00000473588.2:c.464C>G
NM_007055.3:c.1662C>G	NP_008986.2:p.Leu554=
NM_007055.4:c.1662C>G MANE Select	NP_008986.2:p.Leu554=