Canonical Allele Identifier: CA427148246
Gene: POLR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.86267526C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040403C>G , CM000664.2:g.86040403C>G GRCh38
NC_000002.11:g.86267526C>G , CM000664.1:g.86267526C>G GRCh37
NC_000002.10:g.86121037C>G NCBI36
NG_050742.2:g.70753G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3729G>C MANE Select ENSP00000263857.6:p.Leu1243=
ENST00000263857.10:c.3729G>C ENSP00000263857.6:p.Leu1243=
ENST00000409681.1:c.3729G>C ENSP00000386300.1:p.Leu1243=
ENST00000462078.1:n.117G>C
NM_015425.3:c.3729G>C NP_056240.2:p.Leu1243=
XM_006711983.2:c.3405G>C XP_006712046.1:p.Leu1135=
NM_015425.5:c.3729G>C NP_056240.2:p.Leu1243=
NM_015425.6:c.3729G>C MANE Select NP_056240.2:p.Leu1243=
Search 100 bp 5'
Search 100 bp 3'