Canonical Allele Identifier: CA406345454

Gene: POLR1G

Linked Data

• dbSNP Id: rs1286466865
• gnomAD v2: 19-45910463-T-C
• gnomAD v4: 19-45407205-T-C
• MyVariant Identifiers: chr19:g.45910463T>C (hg19) ; chr19:g.45407205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407205T>C , CM000681.2:g.45407205T>C	GRCh38
NC_000019.9:g.45910463T>C , CM000681.1:g.45910463T>C	GRCh37
NC_000019.8:g.50602303T>C	NCBI36
NG_015839.2:g.76624A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.134T>C MANE Select	ENSP00000310966.3:p.Ile45Thr
ENST00000309424.7:c.134T>C	ENSP00000310966.3:p.Ile45Thr
ENST00000589804.1:c.140T>C	ENSP00000465099.1:p.Ile47Thr
ENST00000590794.1:c.20+487T>C
ENST00000592852.1:c.-401T>C	ENSP00000467771.1:n.-401T>C
NM_001297590.1:c.140T>C	NP_001284519.1:p.Ile47Thr
NM_012099.1:c.134T>C	NP_036231.1:p.Ile45Thr
NM_001297590.2:c.140T>C	NP_001284519.1:p.Ile47Thr
NM_012099.2:c.134T>C	NP_036231.1:p.Ile45Thr
NM_001297590.3:c.140T>C	NP_001284519.1:p.Ile47Thr
NM_012099.3:c.134T>C MANE Select	NP_036231.1:p.Ile45Thr