Canonical Allele Identifier: CA427147126
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs373607912
gnomAD v2: 2-86257433-C-G
gnomAD v4: 2-86030310-C-G
MyVariant Identifiers: chr2:g.86257433C>G (hg19) chr2:g.86030310C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030310C>G , CM000664.2:g.86030310C>G GRCh38
NC_000002.11:g.86257433C>G , CM000664.1:g.86257433C>G GRCh37
NC_000002.10:g.86110944C>G NCBI36
NG_050742.2:g.80846G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4665G>C MANE Select ENSP00000263857.6:p.Ala1555=
ENST00000263857.10:c.4665G>C ENSP00000263857.6:p.Ala1555=
ENST00000409681.1:c.4482G>C ENSP00000386300.1:p.Ala1494=
NM_015425.3:c.4665G>C NP_056240.2:p.Ala1555=
XM_006711983.2:c.4341G>C XP_006712046.1:p.Ala1447=
NM_015425.5:c.4665G>C NP_056240.2:p.Ala1555=
NM_015425.6:c.4665G>C MANE Select NP_056240.2:p.Ala1555=
Search 100 bp 5'
Search 100 bp 3'