Canonical Allele Identifier: CA51365446
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs549980001
gnomAD v3: 2-86030049-G-C
gnomAD v4: 2-86030049-G-C
MyVariant Identifiers: chr2:g.86257172G>C (hg19) chr2:g.86030049G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030049G>C , CM000664.2:g.86030049G>C GRCh38
NC_000002.11:g.86257172G>C , CM000664.1:g.86257172G>C GRCh37
NC_000002.10:g.86110683G>C NCBI36
NG_050742.2:g.81107C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+147C>G MANE Select ENSP00000263857.6:n.4779+147C>G
ENST00000263857.10:c.4779+147C>G ENSP00000263857.6:n.4779+147C>G
ENST00000409681.1:c.4596+147C>G ENSP00000386300.1:n.4596+147C>G
NM_015425.3:c.4779+147C>G NP_056240.2:n.4779+147C>G
XM_006711983.2:c.4455+147C>G XP_006712046.1:n.4455+147C>G
NM_015425.5:c.4779+147C>G NP_056240.2:n.4779+147C>G
NM_015425.6:c.4779+147C>G MANE Select NP_056240.2:n.4779+147C>G
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