Canonical Allele Identifier: CA996308497

Gene: POLR1G

Linked Data

• dbSNP Id: rs1973385581
• gnomAD v3: 19-45406919-G-T
• gnomAD v4: 19-45406919-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406919G>T , CM000681.2:g.45406919G>T	GRCh38
NC_000019.9:g.45910177G>T , CM000681.1:g.45910177G>T	GRCh37
NC_000019.8:g.50602017G>T	NCBI36
NG_015839.2:g.76910C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.23-175G>T MANE Select	ENSP00000310966.3:n.23-175G>T
ENST00000309424.7:c.23-175G>T	ENSP00000310966.3:n.23-175G>T
ENST00000589804.1:c.29-175G>T	ENSP00000465099.1:n.29-175G>T
ENST00000590794.1:c.20+201G>T
ENST00000592852.1:c.-687G>T	ENSP00000467771.1:n.-687G>T
NM_001297590.1:c.29-175G>T	NP_001284519.1:n.29-175G>T
NM_012099.1:c.23-175G>T	NP_036231.1:n.23-175G>T
NM_001297590.2:c.29-175G>T	NP_001284519.1:n.29-175G>T
NM_012099.2:c.23-175G>T	NP_036231.1:n.23-175G>T
NM_001297590.3:c.29-175G>T	NP_001284519.1:n.29-175G>T
NM_012099.3:c.23-175G>T MANE Select	NP_036231.1:n.23-175G>T