Canonical Allele Identifier: CA347545254
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86030205-C-G
MyVariant Identifiers: chr2:g.86257328C>G (hg19) chr2:g.86030205C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030205C>G , CM000664.2:g.86030205C>G GRCh38
NC_000002.11:g.86257328C>G , CM000664.1:g.86257328C>G GRCh37
NC_000002.10:g.86110839C>G NCBI36
NG_050742.2:g.80951G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4770G>C MANE Select ENSP00000263857.6:p.Lys1590Asn
ENST00000263857.10:c.4770G>C ENSP00000263857.6:p.Lys1590Asn
ENST00000409681.1:c.4587G>C ENSP00000386300.1:p.Lys1529Asn
NM_015425.3:c.4770G>C NP_056240.2:p.Lys1590Asn
XM_006711983.2:c.4446G>C XP_006712046.1:p.Lys1482Asn
NM_015425.5:c.4770G>C NP_056240.2:p.Lys1590Asn
NM_015425.6:c.4770G>C MANE Select NP_056240.2:p.Lys1590Asn
Search 100 bp 5'
Search 100 bp 3'