Canonical Allele Identifier: CA1033085468
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs762116364
gnomAD v3: 2-86030187-C-A
gnomAD v4: 2-86030187-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030187C>A , CM000664.2:g.86030187C>A GRCh38
NC_000002.11:g.86257310C>A , CM000664.1:g.86257310C>A GRCh37
NC_000002.10:g.86110821C>A NCBI36
NG_050742.2:g.80969G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+9G>T MANE Select ENSP00000263857.6:n.4779+9G>T
ENST00000263857.10:c.4779+9G>T ENSP00000263857.6:n.4779+9G>T
ENST00000409681.1:c.4596+9G>T ENSP00000386300.1:n.4596+9G>T
NM_015425.3:c.4779+9G>T NP_056240.2:n.4779+9G>T
XM_006711983.2:c.4455+9G>T XP_006712046.1:n.4455+9G>T
NM_015425.5:c.4779+9G>T NP_056240.2:n.4779+9G>T
NM_015425.6:c.4779+9G>T MANE Select NP_056240.2:n.4779+9G>T
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