Canonical Allele Identifier: CA347545550
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030347A>C , CM000664.2:g.86030347A>C GRCh38
NC_000002.11:g.86257470A>C , CM000664.1:g.86257470A>C GRCh37
NC_000002.10:g.86110981A>C NCBI36
NG_050742.2:g.80809T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4628T>G MANE Select ENSP00000263857.6:p.Leu1543Arg
ENST00000263857.10:c.4628T>G ENSP00000263857.6:p.Leu1543Arg
ENST00000409681.1:c.4445T>G ENSP00000386300.1:p.Leu1482Arg
NM_015425.3:c.4628T>G NP_056240.2:p.Leu1543Arg
XM_006711983.2:c.4304T>G XP_006712046.1:p.Leu1435Arg
NM_015425.5:c.4628T>G NP_056240.2:p.Leu1543Arg
NM_015425.6:c.4628T>G MANE Select NP_056240.2:p.Leu1543Arg