Canonical Allele Identifier: CA9514896

Gene: POLR1G

Linked Data

• dbSNP Id: rs779704319
• ExAC: 19:45910516 A / C
• gnomAD v2: 19-45910516-A-C
• gnomAD v3: 19-45407258-A-C
• gnomAD v4: 19-45407258-A-C
• MyVariant Identifiers: chr19:g.45910516A>C (hg19) ; chr19:g.45407258A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407258A>C , CM000681.2:g.45407258A>C	GRCh38
NC_000019.9:g.45910516A>C , CM000681.1:g.45910516A>C	GRCh37
NC_000019.8:g.50602356A>C	NCBI36
NG_015839.2:g.76571T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.164+23A>C MANE Select	ENSP00000310966.3:n.164+23A>C
ENST00000309424.7:c.164+23A>C	ENSP00000310966.3:n.164+23A>C
ENST00000589804.1:c.170+23A>C	ENSP00000465099.1:n.170+23A>C
ENST00000590794.1:c.20+540A>C
ENST00000592852.1:c.-371+23A>C	ENSP00000467771.1:n.-371+23A>C
NM_001297590.1:c.170+23A>C	NP_001284519.1:n.170+23A>C
NM_012099.1:c.164+23A>C	NP_036231.1:n.164+23A>C
NM_001297590.2:c.170+23A>C	NP_001284519.1:n.170+23A>C
NM_012099.2:c.164+23A>C	NP_036231.1:n.164+23A>C
NM_001297590.3:c.170+23A>C	NP_001284519.1:n.170+23A>C
NM_012099.3:c.164+23A>C MANE Select	NP_036231.1:n.164+23A>C