Canonical Allele Identifier: CA377347036
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78025111A>T , CM000672.2:g.78025111A>T GRCh38
NC_000010.10:g.79784869A>T , CM000672.1:g.79784869A>T GRCh37
NC_000010.9:g.79454875A>T NCBI36
NG_029648.1:g.9430T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698729.1:n.458T>A
ENST00000698730.1:n.458T>A
ENST00000698731.1:c.350T>A ENSP00000513898.1:p.Leu117Gln
ENST00000698732.1:c.350T>A ENSP00000513899.1:p.Leu117Gln
ENST00000698733.1:c.350T>A ENSP00000513900.1:p.Leu117Gln
ENST00000698734.1:c.350T>A ENSP00000513901.1:p.Leu117Gln
ENST00000698735.1:n.465T>A
ENST00000698736.1:n.465T>A
ENST00000698737.1:n.465T>A
ENST00000698738.1:n.465T>A
ENST00000698739.1:n.465T>A
ENST00000372371.8:c.350T>A MANE Select ENSP00000361446.3:p.Leu117Gln
ENST00000372371.7:c.350T>A ENSP00000361446.3:p.Leu117Gln
NM_007055.3:c.350T>A NP_008986.2:p.Leu117Gln
NM_007055.4:c.350T>A MANE Select NP_008986.2:p.Leu117Gln