Canonical Allele Identifier: CA347552074
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86040399-T-C
MyVariant Identifiers: chr2:g.86267522T>C (hg19) chr2:g.86040399T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040399T>C , CM000664.2:g.86040399T>C GRCh38
NC_000002.11:g.86267522T>C , CM000664.1:g.86267522T>C GRCh37
NC_000002.10:g.86121033T>C NCBI36
NG_050742.2:g.70757A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3733A>G MANE Select ENSP00000263857.6:p.Ile1245Val
ENST00000263857.10:c.3733A>G ENSP00000263857.6:p.Ile1245Val
ENST00000409681.1:c.3733A>G ENSP00000386300.1:p.Ile1245Val
ENST00000462078.1:n.121A>G
NM_015425.3:c.3733A>G NP_056240.2:p.Ile1245Val
XM_006711983.2:c.3409A>G XP_006712046.1:p.Ile1137Val
NM_015425.5:c.3733A>G NP_056240.2:p.Ile1245Val
NM_015425.6:c.3733A>G MANE Select NP_056240.2:p.Ile1245Val
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Search 100 bp 3'