Canonical Allele Identifier: CA1267041200
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs549980001

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030049G>A , CM000664.2:g.86030049G>A GRCh38
NC_000002.11:g.86257172G>A , CM000664.1:g.86257172G>A GRCh37
NC_000002.10:g.86110683G>A NCBI36
NG_050742.2:g.81107C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+147C>T MANE Select ENSP00000263857.6:n.4779+147C>T
ENST00000263857.10:c.4779+147C>T ENSP00000263857.6:n.4779+147C>T
ENST00000409681.1:c.4596+147C>T ENSP00000386300.1:n.4596+147C>T
NM_015425.3:c.4779+147C>T NP_056240.2:n.4779+147C>T
XM_006711983.2:c.4455+147C>T XP_006712046.1:n.4455+147C>T
NM_015425.5:c.4779+147C>T NP_056240.2:n.4779+147C>T
NM_015425.6:c.4779+147C>T MANE Select NP_056240.2:n.4779+147C>T