Canonical Allele Identifier: CA534230452
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs1326242065
gnomAD v2: 2-86257156-G-A
gnomAD v3: 2-86030033-G-A
gnomAD v4: 2-86030033-G-A
MyVariant Identifiers: chr2:g.86257156G>A (hg19) chr2:g.86030033G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030033G>A , CM000664.2:g.86030033G>A GRCh38
NC_000002.11:g.86257156G>A , CM000664.1:g.86257156G>A GRCh37
NC_000002.10:g.86110667G>A NCBI36
NG_050742.2:g.81123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+163C>T MANE Select ENSP00000263857.6:n.4779+163C>T
ENST00000263857.10:c.4779+163C>T ENSP00000263857.6:n.4779+163C>T
ENST00000409681.1:c.4596+163C>T ENSP00000386300.1:n.4596+163C>T
NM_015425.3:c.4779+163C>T NP_056240.2:n.4779+163C>T
XM_006711983.2:c.4455+163C>T XP_006712046.1:n.4455+163C>T
NM_015425.5:c.4779+163C>T NP_056240.2:n.4779+163C>T
NM_015425.6:c.4779+163C>T MANE Select NP_056240.2:n.4779+163C>T
Search 100 bp 5'
Search 100 bp 3'