Canonical Allele Identifier: CA406345479
Gene: POLR1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45407217C>A , CM000681.2:g.45407217C>A GRCh38
NC_000019.9:g.45910475C>A , CM000681.1:g.45910475C>A GRCh37
NC_000019.8:g.50602315C>A NCBI36
NG_015839.2:g.76612G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.146C>A MANE Select ENSP00000310966.3:p.Ala49Glu
ENST00000309424.7:c.146C>A ENSP00000310966.3:p.Ala49Glu
ENST00000589804.1:c.152C>A ENSP00000465099.1:p.Ala51Glu
ENST00000590794.1:c.20+499C>A
ENST00000592852.1:c.-389C>A ENSP00000467771.1:n.-389C>A
NM_001297590.1:c.152C>A NP_001284519.1:p.Ala51Glu
NM_012099.1:c.146C>A NP_036231.1:p.Ala49Glu
NM_001297590.2:c.152C>A NP_001284519.1:p.Ala51Glu
NM_012099.2:c.146C>A NP_036231.1:p.Ala49Glu
NM_001297590.3:c.152C>A NP_001284519.1:p.Ala51Glu
NM_012099.3:c.146C>A MANE Select NP_036231.1:p.Ala49Glu