Canonical Allele Identifier: CA534230467
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs1218893129
gnomAD v2: 2-86257302-C-A
gnomAD v3: 2-86030179-C-A
gnomAD v4: 2-86030179-C-A
MyVariant Identifiers: chr2:g.86257302C>A (hg19) chr2:g.86257302_86257304delinsAAG (hg19) chr2:g.86030179C>A (hg38) chr2:g.86030179_86030181delinsAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030179C>A , CM000664.2:g.86030179C>A GRCh38
NC_000002.11:g.86257302C>A , CM000664.1:g.86257302C>A GRCh37
NC_000002.10:g.86110813C>A NCBI36
NG_050742.2:g.80977G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+17G>T MANE Select ENSP00000263857.6:n.4779+17G>T
ENST00000263857.10:c.4779+17G>T ENSP00000263857.6:n.4779+17G>T
ENST00000409681.1:c.4596+17G>T ENSP00000386300.1:n.4596+17G>T
NM_015425.3:c.4779+17G>T NP_056240.2:n.4779+17G>T
XM_006711983.2:c.4455+17G>T XP_006712046.1:n.4455+17G>T
NM_015425.5:c.4779+17G>T NP_056240.2:n.4779+17G>T
NM_015425.6:c.4779+17G>T MANE Select NP_056240.2:n.4779+17G>T
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