Canonical Allele Identifier: CA2659904972
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86030071-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030071A>G , CM000664.2:g.86030071A>G GRCh38
NC_000002.11:g.86257194A>G , CM000664.1:g.86257194A>G GRCh37
NC_000002.10:g.86110705A>G NCBI36
NG_050742.2:g.81085T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+125T>C MANE Select ENSP00000263857.6:n.4779+125T>C
ENST00000263857.10:c.4779+125T>C ENSP00000263857.6:n.4779+125T>C
ENST00000409681.1:c.4596+125T>C ENSP00000386300.1:n.4596+125T>C
NM_015425.3:c.4779+125T>C NP_056240.2:n.4779+125T>C
XM_006711983.2:c.4455+125T>C XP_006712046.1:n.4455+125T>C
NM_015425.5:c.4779+125T>C NP_056240.2:n.4779+125T>C
NM_015425.6:c.4779+125T>C MANE Select NP_056240.2:n.4779+125T>C
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