Canonical Allele Identifier: CA347552062
Gene: POLR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.86267520A>C (hg19) chr2:g.86040397A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040397A>C , CM000664.2:g.86040397A>C GRCh38
NC_000002.11:g.86267520A>C , CM000664.1:g.86267520A>C GRCh37
NC_000002.10:g.86121031A>C NCBI36
NG_050742.2:g.70759T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3735T>G MANE Select ENSP00000263857.6:p.Ile1245Met
ENST00000263857.10:c.3735T>G ENSP00000263857.6:p.Ile1245Met
ENST00000409681.1:c.3735T>G ENSP00000386300.1:p.Ile1245Met
ENST00000462078.1:n.123T>G
NM_015425.3:c.3735T>G NP_056240.2:p.Ile1245Met
XM_006711983.2:c.3411T>G XP_006712046.1:p.Ile1137Met
NM_015425.5:c.3735T>G NP_056240.2:p.Ile1245Met
NM_015425.6:c.3735T>G MANE Select NP_056240.2:p.Ile1245Met
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