Canonical Allele Identifier: CA507815689

Gene: POLR1G

Linked Data

• MyVariant Identifiers: chr19:g.45910371T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407113T>C , CM000681.2:g.45407113T>C	GRCh38
NC_000019.9:g.45910371T>C , CM000681.1:g.45910371T>C	GRCh37
NC_000019.8:g.50602211T>C	NCBI36
NG_015839.2:g.76716A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.42T>C MANE Select	ENSP00000310966.3:p.Cys14=
ENST00000309424.7:c.42T>C	ENSP00000310966.3:p.Cys14=
ENST00000589804.1:c.48T>C	ENSP00000465099.1:p.Cys16=
ENST00000590794.1:c.20+395T>C
ENST00000592852.1:c.-493T>C	ENSP00000467771.1:n.-493T>C
NM_001297590.1:c.48T>C	NP_001284519.1:p.Cys16=
NM_012099.1:c.42T>C	NP_036231.1:p.Cys14=
NM_001297590.2:c.48T>C	NP_001284519.1:p.Cys16=
NM_012099.2:c.42T>C	NP_036231.1:p.Cys14=
NM_001297590.3:c.48T>C	NP_001284519.1:p.Cys16=
NM_012099.3:c.42T>C MANE Select	NP_036231.1:p.Cys14=