Canonical Allele Identifier: CA1745703
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs764219138
ExAC: 2:86267490 C / T
gnomAD v2: 2-86267490-C-T
gnomAD v4: 2-86040367-C-T
MyVariant Identifiers: chr2:g.86267490C>T (hg19) chr2:g.86040367C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040367C>T , CM000664.2:g.86040367C>T GRCh38
NC_000002.11:g.86267490C>T , CM000664.1:g.86267490C>T GRCh37
NC_000002.10:g.86121001C>T NCBI36
NG_050742.2:g.70789G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3740+25G>A MANE Select ENSP00000263857.6:n.3740+25G>A
ENST00000263857.10:c.3740+25G>A ENSP00000263857.6:n.3740+25G>A
ENST00000409681.1:c.3740+25G>A ENSP00000386300.1:n.3740+25G>A
ENST00000462078.1:n.128+25G>A
NM_015425.3:c.3740+25G>A NP_056240.2:n.3740+25G>A
XM_006711983.2:c.3416+25G>A XP_006712046.1:n.3416+25G>A
NM_015425.5:c.3740+25G>A NP_056240.2:n.3740+25G>A
NM_015425.6:c.3740+25G>A MANE Select NP_056240.2:n.3740+25G>A
Search 100 bp 5'
Search 100 bp 3'