Canonical Allele Identifier: CA347552111
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86040411-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040411C>A , CM000664.2:g.86040411C>A GRCh38
NC_000002.11:g.86267534C>A , CM000664.1:g.86267534C>A GRCh37
NC_000002.10:g.86121045C>A NCBI36
NG_050742.2:g.70745G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3721G>T MANE Select ENSP00000263857.6:p.Val1241Phe
ENST00000263857.10:c.3721G>T ENSP00000263857.6:p.Val1241Phe
ENST00000409681.1:c.3721G>T ENSP00000386300.1:p.Val1241Phe
ENST00000462078.1:n.109G>T
NM_015425.3:c.3721G>T NP_056240.2:p.Val1241Phe
XM_006711983.2:c.3397G>T XP_006712046.1:p.Val1133Phe
NM_015425.5:c.3721G>T NP_056240.2:p.Val1241Phe
NM_015425.6:c.3721G>T MANE Select NP_056240.2:p.Val1241Phe