Canonical Allele Identifier: CA2585795802

Gene: POLR1G

Linked Data

• gnomAD v4: 19-45407248-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407248G>A , CM000681.2:g.45407248G>A	GRCh38
NC_000019.9:g.45910506G>A , CM000681.1:g.45910506G>A	GRCh37
NC_000019.8:g.50602346G>A	NCBI36
NG_015839.2:g.76581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.164+13G>A MANE Select	ENSP00000310966.3:n.164+13G>A
ENST00000309424.7:c.164+13G>A	ENSP00000310966.3:n.164+13G>A
ENST00000589804.1:c.170+13G>A	ENSP00000465099.1:n.170+13G>A
ENST00000590794.1:c.20+530G>A
ENST00000592852.1:c.-371+13G>A	ENSP00000467771.1:n.-371+13G>A
NM_001297590.1:c.170+13G>A	NP_001284519.1:n.170+13G>A
NM_012099.1:c.164+13G>A	NP_036231.1:n.164+13G>A
NM_001297590.2:c.170+13G>A	NP_001284519.1:n.170+13G>A
NM_012099.2:c.164+13G>A	NP_036231.1:n.164+13G>A
NM_001297590.3:c.170+13G>A	NP_001284519.1:n.170+13G>A
NM_012099.3:c.164+13G>A MANE Select	NP_036231.1:n.164+13G>A