Canonical Allele Identifier: CA894038374

Gene: POLR1A

Linked Data

• dbSNP Id: rs1222204637
• gnomAD v3: 2-86030024-G-A
• gnomAD v4: 2-86030024-G-A
• MyVariant Identifiers: chr2:g.86257147G>A (hg19) ; chr2:g.86030024G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030024G>A , CM000664.2:g.86030024G>A	GRCh38
NC_000002.11:g.86257147G>A , CM000664.1:g.86257147G>A	GRCh37
NC_000002.10:g.86110658G>A	NCBI36
NG_050742.2:g.81132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4779+172C>T MANE Select	ENSP00000263857.6:n.4779+172C>T
ENST00000263857.10:c.4779+172C>T	ENSP00000263857.6:n.4779+172C>T
ENST00000409681.1:c.4596+172C>T	ENSP00000386300.1:n.4596+172C>T
NM_015425.3:c.4779+172C>T	NP_056240.2:n.4779+172C>T
XM_006711983.2:c.4455+172C>T	XP_006712046.1:n.4455+172C>T
NM_015425.5:c.4779+172C>T	NP_056240.2:n.4779+172C>T
NM_015425.6:c.4779+172C>T MANE Select	NP_056240.2:n.4779+172C>T