Canonical Allele Identifier: CA347545533
Gene: POLR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2123333
ClinVar RCV Id: RCV003055025
MyVariant Identifiers: chr2:g.86257461G>A (hg19) chr2:g.86030338G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030338G>A , CM000664.2:g.86030338G>A GRCh38
NC_000002.11:g.86257461G>A , CM000664.1:g.86257461G>A GRCh37
NC_000002.10:g.86110972G>A NCBI36
NG_050742.2:g.80818C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4637C>T MANE Select ENSP00000263857.6:p.Ser1546Phe
ENST00000263857.10:c.4637C>T ENSP00000263857.6:p.Ser1546Phe
ENST00000409681.1:c.4454C>T ENSP00000386300.1:p.Ser1485Phe
NM_015425.3:c.4637C>T NP_056240.2:p.Ser1546Phe
XM_006711983.2:c.4313C>T XP_006712046.1:p.Ser1438Phe
NM_015425.5:c.4637C>T NP_056240.2:p.Ser1546Phe
NM_015425.6:c.4637C>T MANE Select NP_056240.2:p.Ser1546Phe
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