Canonical Allele Identifier: CA1745422
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs780332436
ExAC: 2:86257399 T / C
gnomAD v2: 2-86257399-T-C
gnomAD v4: 2-86030276-T-C
MyVariant Identifiers: chr2:g.86257399T>C (hg19) chr2:g.86030276T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030276T>C , CM000664.2:g.86030276T>C GRCh38
NC_000002.11:g.86257399T>C , CM000664.1:g.86257399T>C GRCh37
NC_000002.10:g.86110910T>C NCBI36
NG_050742.2:g.80880A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4699A>G MANE Select ENSP00000263857.6:p.Thr1567Ala
ENST00000263857.10:c.4699A>G ENSP00000263857.6:p.Thr1567Ala
ENST00000409681.1:c.4516A>G ENSP00000386300.1:p.Thr1506Ala
NM_015425.3:c.4699A>G NP_056240.2:p.Thr1567Ala
XM_006711983.2:c.4375A>G XP_006712046.1:p.Thr1459Ala
NM_015425.5:c.4699A>G NP_056240.2:p.Thr1567Ala
NM_015425.6:c.4699A>G MANE Select NP_056240.2:p.Thr1567Ala
Search 100 bp 5'
Search 100 bp 3'