Canonical Allele Identifier: CA308937455

Gene: POLR1G

Linked Data

• dbSNP Id: rs999334010
• gnomAD v2: 19-45910379-A-C
• gnomAD v3: 19-45407121-A-C
• gnomAD v4: 19-45407121-A-C
• MyVariant Identifiers: chr19:g.45910379A>C (hg19) ; chr19:g.45407121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407121A>C , CM000681.2:g.45407121A>C	GRCh38
NC_000019.9:g.45910379A>C , CM000681.1:g.45910379A>C	GRCh37
NC_000019.8:g.50602219A>C	NCBI36
NG_015839.2:g.76708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.50A>C MANE Select	ENSP00000310966.3:p.Asn17Thr
ENST00000309424.7:c.50A>C	ENSP00000310966.3:p.Asn17Thr
ENST00000589804.1:c.56A>C	ENSP00000465099.1:p.Asn19Thr
ENST00000590794.1:c.20+403A>C
ENST00000592852.1:c.-485A>C	ENSP00000467771.1:n.-485A>C
NM_001297590.1:c.56A>C	NP_001284519.1:p.Asn19Thr
NM_012099.1:c.50A>C	NP_036231.1:p.Asn17Thr
NM_001297590.2:c.56A>C	NP_001284519.1:p.Asn19Thr
NM_012099.2:c.50A>C	NP_036231.1:p.Asn17Thr
NM_001297590.3:c.56A>C	NP_001284519.1:p.Asn19Thr
NM_012099.3:c.50A>C MANE Select	NP_036231.1:p.Asn17Thr