Canonical Allele Identifier: CA406345516

Gene: POLR1G

Linked Data

• gnomAD v4: 19-45407234-T-C
• MyVariant Identifiers: chr19:g.45910492T>C (hg19) ; chr19:g.45407234T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407234T>C , CM000681.2:g.45407234T>C	GRCh38
NC_000019.9:g.45910492T>C , CM000681.1:g.45910492T>C	GRCh37
NC_000019.8:g.50602332T>C	NCBI36
NG_015839.2:g.76595A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.163T>C MANE Select	ENSP00000310966.3:p.Cys55Arg
ENST00000309424.7:c.163T>C	ENSP00000310966.3:p.Cys55Arg
ENST00000589804.1:c.169T>C	ENSP00000465099.1:p.Cys57Arg
ENST00000590794.1:c.20+516T>C
ENST00000592852.1:c.-372T>C	ENSP00000467771.1:n.-372T>C
NM_001297590.1:c.169T>C	NP_001284519.1:p.Cys57Arg
NM_012099.1:c.163T>C	NP_036231.1:p.Cys55Arg
NM_001297590.2:c.169T>C	NP_001284519.1:p.Cys57Arg
NM_012099.2:c.163T>C	NP_036231.1:p.Cys55Arg
NM_001297590.3:c.169T>C	NP_001284519.1:p.Cys57Arg
NM_012099.3:c.163T>C MANE Select	NP_036231.1:p.Cys55Arg