Canonical Allele Identifier: CA342778
Gene: POLR3A HGNC NCBI

Linked Data

ClinVar Variation Id: 31145
dbSNP Id: rs267608671

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000043T>C , CM000672.2:g.78000043T>C GRCh38
NC_000010.10:g.79759801T>C , CM000672.1:g.79759801T>C GRCh37
NC_000010.9:g.79429807T>C NCBI36
NG_029648.1:g.34498A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698727.1:n.1614A>G
ENST00000698728.1:n.2133A>G
ENST00000698729.1:n.3679A>G
ENST00000698730.1:n.3679A>G
ENST00000698731.1:c.2413A>G ENSP00000513898.1:p.Met805Val
ENST00000698732.1:c.*1415A>G ENSP00000513899.1:n.*1415A>G
ENST00000698733.1:c.*1741A>G ENSP00000513900.1:n.*1741A>G
ENST00000698734.1:c.2554A>G ENSP00000513901.1:p.Met852Val
ENST00000698735.1:n.2669A>G
ENST00000698736.1:n.2669A>G
ENST00000698737.1:n.2669A>G
ENST00000698738.1:n.2669A>G
ENST00000698739.1:n.2669A>G
ENST00000372371.8:c.2554A>G MANE Select ENSP00000361446.3:p.Met852Val
ENST00000372371.7:c.2554A>G ENSP00000361446.3:p.Met852Val
ENST00000472014.5:n.469+4673A>G
NM_007055.3:c.2554A>G NP_008986.2:p.Met852Val
NM_007055.4:c.2554A>G MANE Select NP_008986.2:p.Met852Val