Canonical Allele Identifier: CA2505862323
Gene: POLR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030072G>C , CM000664.2:g.86030072G>C GRCh38
NC_000002.11:g.86257195G>C , CM000664.1:g.86257195G>C GRCh37
NC_000002.10:g.86110706G>C NCBI36
NG_050742.2:g.81084C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+124C>G MANE Select ENSP00000263857.6:n.4779+124C>G
ENST00000263857.10:c.4779+124C>G ENSP00000263857.6:n.4779+124C>G
ENST00000409681.1:c.4596+124C>G ENSP00000386300.1:n.4596+124C>G
NM_015425.3:c.4779+124C>G NP_056240.2:n.4779+124C>G
XM_006711983.2:c.4455+124C>G XP_006712046.1:n.4455+124C>G
NM_015425.5:c.4779+124C>G NP_056240.2:n.4779+124C>G
NM_015425.6:c.4779+124C>G MANE Select NP_056240.2:n.4779+124C>G