Canonical Allele Identifier: CA427148247
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs1672580575
gnomAD v4: 2-86040403-C-A
MyVariant Identifiers: chr2:g.86267526C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040403C>A , CM000664.2:g.86040403C>A GRCh38
NC_000002.11:g.86267526C>A , CM000664.1:g.86267526C>A GRCh37
NC_000002.10:g.86121037C>A NCBI36
NG_050742.2:g.70753G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3729G>T MANE Select ENSP00000263857.6:p.Leu1243=
ENST00000263857.10:c.3729G>T ENSP00000263857.6:p.Leu1243=
ENST00000409681.1:c.3729G>T ENSP00000386300.1:p.Leu1243=
ENST00000462078.1:n.117G>T
NM_015425.3:c.3729G>T NP_056240.2:p.Leu1243=
XM_006711983.2:c.3405G>T XP_006712046.1:p.Leu1135=
NM_015425.5:c.3729G>T NP_056240.2:p.Leu1243=
NM_015425.6:c.3729G>T MANE Select NP_056240.2:p.Leu1243=