Canonical Allele Identifier: CA427147132
Gene: POLR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.86257439G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030316G>T , CM000664.2:g.86030316G>T GRCh38
NC_000002.11:g.86257439G>T , CM000664.1:g.86257439G>T GRCh37
NC_000002.10:g.86110950G>T NCBI36
NG_050742.2:g.80840C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4659C>A MANE Select ENSP00000263857.6:p.Ile1553=
ENST00000263857.10:c.4659C>A ENSP00000263857.6:p.Ile1553=
ENST00000409681.1:c.4476C>A ENSP00000386300.1:p.Ile1492=
NM_015425.3:c.4659C>A NP_056240.2:p.Ile1553=
XM_006711983.2:c.4335C>A XP_006712046.1:p.Ile1445=
NM_015425.5:c.4659C>A NP_056240.2:p.Ile1553=
NM_015425.6:c.4659C>A MANE Select NP_056240.2:p.Ile1553=