Canonical Allele Identifier: CA347545392
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs1672360777
gnomAD v4: 2-86030266-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030266T>C , CM000664.2:g.86030266T>C GRCh38
NC_000002.11:g.86257389T>C , CM000664.1:g.86257389T>C GRCh37
NC_000002.10:g.86110900T>C NCBI36
NG_050742.2:g.80890A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4709A>G MANE Select ENSP00000263857.6:p.Asn1570Ser
ENST00000263857.10:c.4709A>G ENSP00000263857.6:p.Asn1570Ser
ENST00000409681.1:c.4526A>G ENSP00000386300.1:p.Asn1509Ser
NM_015425.3:c.4709A>G NP_056240.2:p.Asn1570Ser
XM_006711983.2:c.4385A>G XP_006712046.1:p.Asn1462Ser
NM_015425.5:c.4709A>G NP_056240.2:p.Asn1570Ser
NM_015425.6:c.4709A>G MANE Select NP_056240.2:p.Asn1570Ser