Canonical Allele Identifier: CA347545333
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030240T>G , CM000664.2:g.86030240T>G GRCh38
NC_000002.11:g.86257363T>G , CM000664.1:g.86257363T>G GRCh37
NC_000002.10:g.86110874T>G NCBI36
NG_050742.2:g.80916A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4735A>C MANE Select ENSP00000263857.6:p.Asn1579His
ENST00000263857.10:c.4735A>C ENSP00000263857.6:p.Asn1579His
ENST00000409681.1:c.4552A>C ENSP00000386300.1:p.Asn1518His
NM_015425.3:c.4735A>C NP_056240.2:p.Asn1579His
XM_006711983.2:c.4411A>C XP_006712046.1:p.Asn1471His
NM_015425.5:c.4735A>C NP_056240.2:p.Asn1579His
NM_015425.6:c.4735A>C MANE Select NP_056240.2:p.Asn1579His