Canonical Allele Identifier: CA347552098
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040405G>C , CM000664.2:g.86040405G>C GRCh38
NC_000002.11:g.86267528G>C , CM000664.1:g.86267528G>C GRCh37
NC_000002.10:g.86121039G>C NCBI36
NG_050742.2:g.70751C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3727C>G MANE Select ENSP00000263857.6:p.Leu1243Val
ENST00000263857.10:c.3727C>G ENSP00000263857.6:p.Leu1243Val
ENST00000409681.1:c.3727C>G ENSP00000386300.1:p.Leu1243Val
ENST00000462078.1:n.115C>G
NM_015425.3:c.3727C>G NP_056240.2:p.Leu1243Val
XM_006711983.2:c.3403C>G XP_006712046.1:p.Leu1135Val
NM_015425.5:c.3727C>G NP_056240.2:p.Leu1243Val
NM_015425.6:c.3727C>G MANE Select NP_056240.2:p.Leu1243Val