Canonical Allele Identifier: CA406345484

Gene: POLR1G

Linked Data

• MyVariant Identifiers: chr19:g.45910478A>C (hg19) ; chr19:g.45407220A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407220A>C , CM000681.2:g.45407220A>C	GRCh38
NC_000019.9:g.45910478A>C , CM000681.1:g.45910478A>C	GRCh37
NC_000019.8:g.50602318A>C	NCBI36
NG_015839.2:g.76609T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.149A>C MANE Select	ENSP00000310966.3:p.Asp50Ala
ENST00000309424.7:c.149A>C	ENSP00000310966.3:p.Asp50Ala
ENST00000589804.1:c.155A>C	ENSP00000465099.1:p.Asp52Ala
ENST00000590794.1:c.20+502A>C
ENST00000592852.1:c.-386A>C	ENSP00000467771.1:n.-386A>C
NM_001297590.1:c.155A>C	NP_001284519.1:p.Asp52Ala
NM_012099.1:c.149A>C	NP_036231.1:p.Asp50Ala
NM_001297590.2:c.155A>C	NP_001284519.1:p.Asp52Ala
NM_012099.2:c.149A>C	NP_036231.1:p.Asp50Ala
NM_001297590.3:c.155A>C	NP_001284519.1:p.Asp52Ala
NM_012099.3:c.149A>C MANE Select	NP_036231.1:p.Asp50Ala