Canonical Allele Identifier: CA1745403
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs770002372
ExAC: 2:86257286 C / T
gnomAD v2: 2-86257286-C-T
gnomAD v4: 2-86030163-C-T
MyVariant Identifiers: chr2:g.86257286C>T (hg19) chr2:g.86030163C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030163C>T , CM000664.2:g.86030163C>T GRCh38
NC_000002.11:g.86257286C>T , CM000664.1:g.86257286C>T GRCh37
NC_000002.10:g.86110797C>T NCBI36
NG_050742.2:g.80993G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+33G>A MANE Select ENSP00000263857.6:n.4779+33G>A
ENST00000263857.10:c.4779+33G>A ENSP00000263857.6:n.4779+33G>A
ENST00000409681.1:c.4596+33G>A ENSP00000386300.1:n.4596+33G>A
NM_015425.3:c.4779+33G>A NP_056240.2:n.4779+33G>A
XM_006711983.2:c.4455+33G>A XP_006712046.1:n.4455+33G>A
NM_015425.5:c.4779+33G>A NP_056240.2:n.4779+33G>A
NM_015425.6:c.4779+33G>A MANE Select NP_056240.2:n.4779+33G>A
Search 100 bp 5'
Search 100 bp 3'