Canonical Allele Identifier: CA347545571
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs1318322277
gnomAD v3: 2-86030356-A-G
gnomAD v4: 2-86030356-A-G
MyVariant Identifiers: chr2:g.86257479A>G (hg19) chr2:g.86030356A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030356A>G , CM000664.2:g.86030356A>G GRCh38
NC_000002.11:g.86257479A>G , CM000664.1:g.86257479A>G GRCh37
NC_000002.10:g.86110990A>G NCBI36
NG_050742.2:g.80800T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4619T>C MANE Select ENSP00000263857.6:p.Met1540Thr
ENST00000263857.10:c.4619T>C ENSP00000263857.6:p.Met1540Thr
ENST00000409681.1:c.4436T>C ENSP00000386300.1:p.Met1479Thr
NM_015425.3:c.4619T>C NP_056240.2:p.Met1540Thr
XM_006711983.2:c.4295T>C XP_006712046.1:p.Met1432Thr
NM_015425.5:c.4619T>C NP_056240.2:p.Met1540Thr
NM_015425.6:c.4619T>C MANE Select NP_056240.2:p.Met1540Thr
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