Canonical Allele Identifier: CA427147125
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86030310-C-A
MyVariant Identifiers: chr2:g.86257433C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030310C>A , CM000664.2:g.86030310C>A GRCh38
NC_000002.11:g.86257433C>A , CM000664.1:g.86257433C>A GRCh37
NC_000002.10:g.86110944C>A NCBI36
NG_050742.2:g.80846G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4665G>T MANE Select ENSP00000263857.6:p.Ala1555=
ENST00000263857.10:c.4665G>T ENSP00000263857.6:p.Ala1555=
ENST00000409681.1:c.4482G>T ENSP00000386300.1:p.Ala1494=
NM_015425.3:c.4665G>T NP_056240.2:p.Ala1555=
XM_006711983.2:c.4341G>T XP_006712046.1:p.Ala1447=
NM_015425.5:c.4665G>T NP_056240.2:p.Ala1555=
NM_015425.6:c.4665G>T MANE Select NP_056240.2:p.Ala1555=