Canonical Allele Identifier: CA347545459
Gene: POLR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.86257423T>G (hg19) chr2:g.86030300T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030300T>G , CM000664.2:g.86030300T>G GRCh38
NC_000002.11:g.86257423T>G , CM000664.1:g.86257423T>G GRCh37
NC_000002.10:g.86110934T>G NCBI36
NG_050742.2:g.80856A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263857.11:c.4675A>C MANE Select ENSP00000263857.6:p.Ile1559Leu
ENST00000263857.10:c.4675A>C ENSP00000263857.6:p.Ile1559Leu
ENST00000409681.1:c.4492A>C ENSP00000386300.1:p.Ile1498Leu
NM_015425.3:c.4675A>C NP_056240.2:p.Ile1559Leu
XM_006711983.2:c.4351A>C XP_006712046.1:p.Ile1451Leu
NM_015425.5:c.4675A>C NP_056240.2:p.Ile1559Leu
NM_015425.6:c.4675A>C MANE Select NP_056240.2:p.Ile1559Leu
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