Canonical Allele Identifier: CA2659904924
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86030053-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030053T>A , CM000664.2:g.86030053T>A GRCh38
NC_000002.11:g.86257176T>A , CM000664.1:g.86257176T>A GRCh37
NC_000002.10:g.86110687T>A NCBI36
NG_050742.2:g.81103A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+143A>T MANE Select ENSP00000263857.6:n.4779+143A>T
ENST00000263857.10:c.4779+143A>T ENSP00000263857.6:n.4779+143A>T
ENST00000409681.1:c.4596+143A>T ENSP00000386300.1:n.4596+143A>T
NM_015425.3:c.4779+143A>T NP_056240.2:n.4779+143A>T
XM_006711983.2:c.4455+143A>T XP_006712046.1:n.4455+143A>T
NM_015425.5:c.4779+143A>T NP_056240.2:n.4779+143A>T
NM_015425.6:c.4779+143A>T MANE Select NP_056240.2:n.4779+143A>T