Canonical Allele Identifier: CA1267041207

Gene: POLR1A

Linked Data

• dbSNP Id: rs1672355387
• gnomAD v4: 2-86030057-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030059del , CM000664.2:g.86030059del	GRCh38
NC_000002.11:g.86257182del , CM000664.1:g.86257182del	GRCh37
NC_000002.10:g.86110693del	NCBI36
NG_050742.2:g.81098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4779+138del MANE Select	ENSP00000263857.6:n.4779+138del
ENST00000263857.10:c.4779+138del	ENSP00000263857.6:n.4779+138del
ENST00000409681.1:c.4596+138del	ENSP00000386300.1:n.4596+138del
NM_015425.3:c.4779+138del	NP_056240.2:n.4779+138del
XM_006711983.2:c.4455+138del	XP_006712046.1:n.4455+138del
NM_015425.5:c.4779+138del	NP_056240.2:n.4779+138del
NM_015425.6:c.4779+138del MANE Select	NP_056240.2:n.4779+138del