Canonical Allele Identifier: CA406345264

Gene: POLR1G

Linked Data

• dbSNP Id: rs1432235724
• gnomAD v2: 19-45910371-T-G
• gnomAD v3: 19-45407113-T-G
• gnomAD v4: 19-45407113-T-G
• MyVariant Identifiers: chr19:g.45910371T>G (hg19) ; chr19:g.45407113T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407113T>G , CM000681.2:g.45407113T>G	GRCh38
NC_000019.9:g.45910371T>G , CM000681.1:g.45910371T>G	GRCh37
NC_000019.8:g.50602211T>G	NCBI36
NG_015839.2:g.76716A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.42T>G MANE Select	ENSP00000310966.3:p.Cys14Trp
ENST00000309424.7:c.42T>G	ENSP00000310966.3:p.Cys14Trp
ENST00000589804.1:c.48T>G	ENSP00000465099.1:p.Cys16Trp
ENST00000590794.1:c.20+395T>G
ENST00000592852.1:c.-493T>G	ENSP00000467771.1:n.-493T>G
NM_001297590.1:c.48T>G	NP_001284519.1:p.Cys16Trp
NM_012099.1:c.42T>G	NP_036231.1:p.Cys14Trp
NM_001297590.2:c.48T>G	NP_001284519.1:p.Cys16Trp
NM_012099.2:c.42T>G	NP_036231.1:p.Cys14Trp
NM_001297590.3:c.48T>G	NP_001284519.1:p.Cys16Trp
NM_012099.3:c.42T>G MANE Select	NP_036231.1:p.Cys14Trp