Canonical Allele Identifier: CA347545439
Gene: POLR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.86257412G>C (hg19) chr2:g.86030289G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030289G>C , CM000664.2:g.86030289G>C GRCh38
NC_000002.11:g.86257412G>C , CM000664.1:g.86257412G>C GRCh37
NC_000002.10:g.86110923G>C NCBI36
NG_050742.2:g.80867C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4686C>G MANE Select ENSP00000263857.6:p.Cys1562Trp
ENST00000263857.10:c.4686C>G ENSP00000263857.6:p.Cys1562Trp
ENST00000409681.1:c.4503C>G ENSP00000386300.1:p.Cys1501Trp
NM_015425.3:c.4686C>G NP_056240.2:p.Cys1562Trp
XM_006711983.2:c.4362C>G XP_006712046.1:p.Cys1454Trp
NM_015425.5:c.4686C>G NP_056240.2:p.Cys1562Trp
NM_015425.6:c.4686C>G MANE Select NP_056240.2:p.Cys1562Trp
Search 100 bp 5'
Search 100 bp 3'