Canonical Allele Identifier: CA1745433
Gene: POLR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1414101
ClinVar RCV Id: RCV001945194
dbSNP Id: rs377467532
ExAC: 2:86257437 T / C
gnomAD v2: 2-86257437-T-C
gnomAD v3: 2-86030314-T-C
gnomAD v4: 2-86030314-T-C
MyVariant Identifiers: chr2:g.86257437T>C (hg19) chr2:g.86030314T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030314T>C , CM000664.2:g.86030314T>C GRCh38
NC_000002.11:g.86257437T>C , CM000664.1:g.86257437T>C GRCh37
NC_000002.10:g.86110948T>C NCBI36
NG_050742.2:g.80842A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4661A>G MANE Select ENSP00000263857.6:p.Tyr1554Cys
ENST00000263857.10:c.4661A>G ENSP00000263857.6:p.Tyr1554Cys
ENST00000409681.1:c.4478A>G ENSP00000386300.1:p.Tyr1493Cys
NM_015425.3:c.4661A>G NP_056240.2:p.Tyr1554Cys
XM_006711983.2:c.4337A>G XP_006712046.1:p.Tyr1446Cys
NM_015425.5:c.4661A>G NP_056240.2:p.Tyr1554Cys
NM_015425.6:c.4661A>G MANE Select NP_056240.2:p.Tyr1554Cys
Search 100 bp 5'
Search 100 bp 3'