Canonical Allele Identifier: CA406345443

Gene: POLR1G

Linked Data

• MyVariant Identifiers: chr19:g.45910458G>C (hg19) ; chr19:g.45407200G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407200G>C , CM000681.2:g.45407200G>C	GRCh38
NC_000019.9:g.45910458G>C , CM000681.1:g.45910458G>C	GRCh37
NC_000019.8:g.50602298G>C	NCBI36
NG_015839.2:g.76629C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.129G>C MANE Select	ENSP00000310966.3:p.Trp43Cys
ENST00000309424.7:c.129G>C	ENSP00000310966.3:p.Trp43Cys
ENST00000589804.1:c.135G>C	ENSP00000465099.1:p.Trp45Cys
ENST00000590794.1:c.20+482G>C
ENST00000592852.1:c.-406G>C	ENSP00000467771.1:n.-406G>C
NM_001297590.1:c.135G>C	NP_001284519.1:p.Trp45Cys
NM_012099.1:c.129G>C	NP_036231.1:p.Trp43Cys
NM_001297590.2:c.135G>C	NP_001284519.1:p.Trp45Cys
NM_012099.2:c.129G>C	NP_036231.1:p.Trp43Cys
NM_001297590.3:c.135G>C	NP_001284519.1:p.Trp45Cys
NM_012099.3:c.129G>C MANE Select	NP_036231.1:p.Trp43Cys