Canonical Allele Identifier: CA2577023187
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86030123-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030123A>T , CM000664.2:g.86030123A>T GRCh38
NC_000002.11:g.86257246A>T , CM000664.1:g.86257246A>T GRCh37
NC_000002.10:g.86110757A>T NCBI36
NG_050742.2:g.81033T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+73T>A MANE Select ENSP00000263857.6:n.4779+73T>A
ENST00000263857.10:c.4779+73T>A ENSP00000263857.6:n.4779+73T>A
ENST00000409681.1:c.4596+73T>A ENSP00000386300.1:n.4596+73T>A
NM_015425.3:c.4779+73T>A NP_056240.2:n.4779+73T>A
XM_006711983.2:c.4455+73T>A XP_006712046.1:n.4455+73T>A
NM_015425.5:c.4779+73T>A NP_056240.2:n.4779+73T>A
NM_015425.6:c.4779+73T>A MANE Select NP_056240.2:n.4779+73T>A