Canonical Allele Identifier: CA427148237
Gene: POLR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.86267517T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040394T>G , CM000664.2:g.86040394T>G GRCh38
NC_000002.11:g.86267517T>G , CM000664.1:g.86267517T>G GRCh37
NC_000002.10:g.86121028T>G NCBI36
NG_050742.2:g.70762A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3738A>C MANE Select ENSP00000263857.6:p.Pro1246=
ENST00000263857.10:c.3738A>C ENSP00000263857.6:p.Pro1246=
ENST00000409681.1:c.3738A>C ENSP00000386300.1:p.Pro1246=
ENST00000462078.1:n.126A>C
NM_015425.3:c.3738A>C NP_056240.2:p.Pro1246=
XM_006711983.2:c.3414A>C XP_006712046.1:p.Pro1138=
NM_015425.5:c.3738A>C NP_056240.2:p.Pro1246=
NM_015425.6:c.3738A>C MANE Select NP_056240.2:p.Pro1246=