Canonical Allele Identifier: CA9514898

Gene: POLR1G

Linked Data

• dbSNP Id: rs552921074
• ExAC: 19:45910535 C / A
• gnomAD v2: 19-45910535-C-A
• gnomAD v3: 19-45407277-C-A
• gnomAD v4: 19-45407277-C-A
• MyVariant Identifiers: chr19:g.45910535C>A (hg19) ; chr19:g.45407277C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407277C>A , CM000681.2:g.45407277C>A	GRCh38
NC_000019.9:g.45910535C>A , CM000681.1:g.45910535C>A	GRCh37
NC_000019.8:g.50602375C>A	NCBI36
NG_015839.2:g.76552G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.164+42C>A MANE Select	ENSP00000310966.3:n.164+42C>A
ENST00000309424.7:c.164+42C>A	ENSP00000310966.3:n.164+42C>A
ENST00000589804.1:c.170+42C>A	ENSP00000465099.1:n.170+42C>A
ENST00000590794.1:c.20+559C>A
ENST00000592852.1:c.-371+42C>A	ENSP00000467771.1:n.-371+42C>A
NM_001297590.1:c.170+42C>A	NP_001284519.1:n.170+42C>A
NM_012099.1:c.164+42C>A	NP_036231.1:n.164+42C>A
NM_001297590.2:c.170+42C>A	NP_001284519.1:n.170+42C>A
NM_012099.2:c.164+42C>A	NP_036231.1:n.164+42C>A
NM_001297590.3:c.170+42C>A	NP_001284519.1:n.170+42C>A
NM_012099.3:c.164+42C>A MANE Select	NP_036231.1:n.164+42C>A