Canonical Allele Identifier: CA1745435
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs370258399
ExAC: 2:86257444 C / G
gnomAD v2: 2-86257444-C-G
gnomAD v3: 2-86030321-C-G
gnomAD v4: 2-86030321-C-G
MyVariant Identifiers: chr2:g.86257444C>G (hg19) chr2:g.86030321C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030321C>G , CM000664.2:g.86030321C>G GRCh38
NC_000002.11:g.86257444C>G , CM000664.1:g.86257444C>G GRCh37
NC_000002.10:g.86110955C>G NCBI36
NG_050742.2:g.80835G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4654G>C MANE Select ENSP00000263857.6:p.Val1552Leu
ENST00000263857.10:c.4654G>C ENSP00000263857.6:p.Val1552Leu
ENST00000409681.1:c.4471G>C ENSP00000386300.1:p.Val1491Leu
NM_015425.3:c.4654G>C NP_056240.2:p.Val1552Leu
XM_006711983.2:c.4330G>C XP_006712046.1:p.Val1444Leu
NM_015425.5:c.4654G>C NP_056240.2:p.Val1552Leu
NM_015425.6:c.4654G>C MANE Select NP_056240.2:p.Val1552Leu
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