Canonical Allele Identifier: CA347545576
Gene: POLR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1467350
ClinVar RCV Id: RCV001966325
dbSNP Id: rs1672363039
MyVariant Identifiers: chr2:g.86257480T>C (hg19) chr2:g.86030357T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030357T>C , CM000664.2:g.86030357T>C GRCh38
NC_000002.11:g.86257480T>C , CM000664.1:g.86257480T>C GRCh37
NC_000002.10:g.86110991T>C NCBI36
NG_050742.2:g.80799A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4618A>G MANE Select ENSP00000263857.6:p.Met1540Val
ENST00000263857.10:c.4618A>G ENSP00000263857.6:p.Met1540Val
ENST00000409681.1:c.4435A>G ENSP00000386300.1:p.Met1479Val
NM_015425.3:c.4618A>G NP_056240.2:p.Met1540Val
XM_006711983.2:c.4294A>G XP_006712046.1:p.Met1432Val
NM_015425.5:c.4618A>G NP_056240.2:p.Met1540Val
NM_015425.6:c.4618A>G MANE Select NP_056240.2:p.Met1540Val
Search 100 bp 5'
Search 100 bp 3'