Canonical Allele Identifier: CA1745434
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs752301296
gnomAD v2: 2-86257441-T-C
gnomAD v4: 2-86030318-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030318T>C , CM000664.2:g.86030318T>C GRCh38
NC_000002.11:g.86257441T>C , CM000664.1:g.86257441T>C GRCh37
NC_000002.10:g.86110952T>C NCBI36
NG_050742.2:g.80838A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4657A>G MANE Select ENSP00000263857.6:p.Ile1553Val
ENST00000263857.10:c.4657A>G ENSP00000263857.6:p.Ile1553Val
ENST00000409681.1:c.4474A>G ENSP00000386300.1:p.Ile1492Val
NM_015425.3:c.4657A>G NP_056240.2:p.Ile1553Val
XM_006711983.2:c.4333A>G XP_006712046.1:p.Ile1445Val
NM_015425.5:c.4657A>G NP_056240.2:p.Ile1553Val
NM_015425.6:c.4657A>G MANE Select NP_056240.2:p.Ile1553Val