Canonical Allele Identifier: CA507815666

Gene: POLR1G

Linked Data

• dbSNP Id: rs1271357633
• gnomAD v2: 19-45910368-T-G
• gnomAD v3: 19-45407110-T-G
• gnomAD v4: 19-45407110-T-G
• MyVariant Identifiers: chr19:g.45910368T>G (hg19) ; chr19:g.45407110T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407110T>G , CM000681.2:g.45407110T>G	GRCh38
NC_000019.9:g.45910368T>G , CM000681.1:g.45910368T>G	GRCh37
NC_000019.8:g.50602208T>G	NCBI36
NG_015839.2:g.76719A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.39T>G MANE Select	ENSP00000310966.3:p.Ser13=
ENST00000309424.7:c.39T>G	ENSP00000310966.3:p.Ser13=
ENST00000589804.1:c.45T>G	ENSP00000465099.1:p.Ser15=
ENST00000590794.1:c.20+392T>G
ENST00000592852.1:c.-496T>G	ENSP00000467771.1:n.-496T>G
NM_001297590.1:c.45T>G	NP_001284519.1:p.Ser15=
NM_012099.1:c.39T>G	NP_036231.1:p.Ser13=
NM_001297590.2:c.45T>G	NP_001284519.1:p.Ser15=
NM_012099.2:c.39T>G	NP_036231.1:p.Ser13=
NM_001297590.3:c.45T>G	NP_001284519.1:p.Ser15=
NM_012099.3:c.39T>G MANE Select	NP_036231.1:p.Ser13=