Canonical Allele Identifier: CA9514870

Gene: POLR1G

Linked Data

• dbSNP Id: rs763874860
• ExAC: 19:45910370 G / A
• gnomAD v2: 19-45910370-G-A
• gnomAD v3: 19-45407112-G-A
• gnomAD v4: 19-45407112-G-A
• MyVariant Identifiers: chr19:g.45910370G>A (hg19) ; chr19:g.45407112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407112G>A , CM000681.2:g.45407112G>A	GRCh38
NC_000019.9:g.45910370G>A , CM000681.1:g.45910370G>A	GRCh37
NC_000019.8:g.50602210G>A	NCBI36
NG_015839.2:g.76717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.41G>A MANE Select	ENSP00000310966.3:p.Cys14Tyr
ENST00000309424.7:c.41G>A	ENSP00000310966.3:p.Cys14Tyr
ENST00000589804.1:c.47G>A	ENSP00000465099.1:p.Cys16Tyr
ENST00000590794.1:c.20+394G>A
ENST00000592852.1:c.-494G>A	ENSP00000467771.1:n.-494G>A
NM_001297590.1:c.47G>A	NP_001284519.1:p.Cys16Tyr
NM_012099.1:c.41G>A	NP_036231.1:p.Cys14Tyr
NM_001297590.2:c.47G>A	NP_001284519.1:p.Cys16Tyr
NM_012099.2:c.41G>A	NP_036231.1:p.Cys14Tyr
NM_001297590.3:c.47G>A	NP_001284519.1:p.Cys16Tyr
NM_012099.3:c.41G>A MANE Select	NP_036231.1:p.Cys14Tyr