Canonical Allele Identifier: CA347545283

Gene: POLR1A

Linked Data

• MyVariant Identifiers: chr2:g.86257341G>T (hg19) ; chr2:g.86030218G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030218G>T , CM000664.2:g.86030218G>T	GRCh38
NC_000002.11:g.86257341G>T , CM000664.1:g.86257341G>T	GRCh37
NC_000002.10:g.86110852G>T	NCBI36
NG_050742.2:g.80938C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4757C>A MANE Select	ENSP00000263857.6:p.Pro1586Gln
ENST00000263857.10:c.4757C>A	ENSP00000263857.6:p.Pro1586Gln
ENST00000409681.1:c.4574C>A	ENSP00000386300.1:p.Pro1525Gln
NM_015425.3:c.4757C>A	NP_056240.2:p.Pro1586Gln
XM_006711983.2:c.4433C>A	XP_006712046.1:p.Pro1478Gln
NM_015425.5:c.4757C>A	NP_056240.2:p.Pro1586Gln
NM_015425.6:c.4757C>A MANE Select	NP_056240.2:p.Pro1586Gln