Canonical Allele Identifier: CA347545226

Gene: POLR1A

Linked Data

• MyVariant Identifiers: chr2:g.86257317A>C (hg19) ; chr2:g.86030194A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030194A>C , CM000664.2:g.86030194A>C	GRCh38
NC_000002.11:g.86257317A>C , CM000664.1:g.86257317A>C	GRCh37
NC_000002.10:g.86110828A>C	NCBI36
NG_050742.2:g.80962T>G

Transcript Alleles

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