Canonical Allele Identifier: CA347545423
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs1360103691
gnomAD v2: 2-86257404-T-C
gnomAD v4: 2-86030281-T-C
MyVariant Identifiers: chr2:g.86257404T>C (hg19) chr2:g.86030281T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030281T>C , CM000664.2:g.86030281T>C GRCh38
NC_000002.11:g.86257404T>C , CM000664.1:g.86257404T>C GRCh37
NC_000002.10:g.86110915T>C NCBI36
NG_050742.2:g.80875A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4694A>G MANE Select ENSP00000263857.6:p.Asn1565Ser
ENST00000263857.10:c.4694A>G ENSP00000263857.6:p.Asn1565Ser
ENST00000409681.1:c.4511A>G ENSP00000386300.1:p.Asn1504Ser
NM_015425.3:c.4694A>G NP_056240.2:p.Asn1565Ser
XM_006711983.2:c.4370A>G XP_006712046.1:p.Asn1457Ser
NM_015425.5:c.4694A>G NP_056240.2:p.Asn1565Ser
NM_015425.6:c.4694A>G MANE Select NP_056240.2:p.Asn1565Ser
Search 100 bp 5'
Search 100 bp 3'