Canonical Allele Identifier: CA1745715
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs777309759
ExAC: 2:86267598 G / A
gnomAD v2: 2-86267598-G-A
gnomAD v3: 2-86040475-G-A
gnomAD v4: 2-86040475-G-A
MyVariant Identifiers: chr2:g.86267598G>A (hg19) chr2:g.86040475G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040475G>A , CM000664.2:g.86040475G>A GRCh38
NC_000002.11:g.86267598G>A , CM000664.1:g.86267598G>A GRCh37
NC_000002.10:g.86121109G>A NCBI36
NG_050742.2:g.70681C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3657C>T MANE Select ENSP00000263857.6:p.Ile1219=
ENST00000263857.10:c.3657C>T ENSP00000263857.6:p.Ile1219=
ENST00000409681.1:c.3657C>T ENSP00000386300.1:p.Ile1219=
ENST00000462078.1:n.45C>T
NM_015425.3:c.3657C>T NP_056240.2:p.Ile1219=
XM_006711983.2:c.3333C>T XP_006712046.1:p.Ile1111=
NM_015425.5:c.3657C>T NP_056240.2:p.Ile1219=
NM_015425.6:c.3657C>T MANE Select NP_056240.2:p.Ile1219=
Search 100 bp 5'
Search 100 bp 3'