Canonical Allele Identifier: CA347545535
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs1386259223
gnomAD v2: 2-86257461-G-T
gnomAD v3: 2-86030338-G-T
gnomAD v4: 2-86030338-G-T
MyVariant Identifiers: chr2:g.86257461G>T (hg19) chr2:g.86030338G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4637C>A MANE Select ENSP00000263857.6:p.Ser1546Tyr
ENST00000263857.10:c.4637C>A ENSP00000263857.6:p.Ser1546Tyr
ENST00000409681.1:c.4454C>A ENSP00000386300.1:p.Ser1485Tyr
NM_015425.3:c.4637C>A NP_056240.2:p.Ser1546Tyr
XM_006711983.2:c.4313C>A XP_006712046.1:p.Ser1438Tyr
NM_015425.5:c.4637C>A NP_056240.2:p.Ser1546Tyr
NM_015425.6:c.4637C>A MANE Select NP_056240.2:p.Ser1546Tyr
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