Canonical Allele Identifier: CA1745418

Gene: POLR1A

Linked Data

• dbSNP Id: rs758145416
• ExAC: 2:86257378 T / C
• gnomAD v2: 2-86257378-T-C
• gnomAD v4: 2-86030255-T-C
• MyVariant Identifiers: chr2:g.86257378T>C (hg19) ; chr2:g.86030255T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030255T>C , CM000664.2:g.86030255T>C	GRCh38
NC_000002.11:g.86257378T>C , CM000664.1:g.86257378T>C	GRCh37
NC_000002.10:g.86110889T>C	NCBI36
NG_050742.2:g.80901A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4720A>G MANE Select	ENSP00000263857.6:p.Lys1574Glu
ENST00000263857.10:c.4720A>G	ENSP00000263857.6:p.Lys1574Glu
ENST00000409681.1:c.4537A>G	ENSP00000386300.1:p.Lys1513Glu
NM_015425.3:c.4720A>G	NP_056240.2:p.Lys1574Glu
XM_006711983.2:c.4396A>G	XP_006712046.1:p.Lys1466Glu
NM_015425.5:c.4720A>G	NP_056240.2:p.Lys1574Glu
NM_015425.6:c.4720A>G MANE Select	NP_056240.2:p.Lys1574Glu