Canonical Allele Identifier: CA427148235
Gene: POLR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.86267516T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040393T>G , CM000664.2:g.86040393T>G GRCh38
NC_000002.11:g.86267516T>G , CM000664.1:g.86267516T>G GRCh37
NC_000002.10:g.86121027T>G NCBI36
NG_050742.2:g.70763A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3739A>C MANE Select ENSP00000263857.6:p.Arg1247=
ENST00000263857.10:c.3739A>C ENSP00000263857.6:p.Arg1247=
ENST00000409681.1:c.3739A>C ENSP00000386300.1:p.Arg1247=
ENST00000462078.1:n.127A>C
NM_015425.3:c.3739A>C NP_056240.2:p.Arg1247=
XM_006711983.2:c.3415A>C XP_006712046.1:p.Arg1139=
NM_015425.5:c.3739A>C NP_056240.2:p.Arg1247=
NM_015425.6:c.3739A>C MANE Select NP_056240.2:p.Arg1247=
Search 100 bp 5'
Search 100 bp 3'