Canonical Allele Identifier: CA9514869

Gene: POLR1G

Linked Data

• dbSNP Id: rs756102625
• ExAC: 19:45910367 C / T
• gnomAD v2: 19-45910367-C-T
• gnomAD v4: 19-45407109-C-T
• COSMIC: COSM1304775
• MyVariant Identifiers: chr19:g.45910367C>T (hg19) ; chr19:g.45407109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407109C>T , CM000681.2:g.45407109C>T	GRCh38
NC_000019.9:g.45910367C>T , CM000681.1:g.45910367C>T	GRCh37
NC_000019.8:g.50602207C>T	NCBI36
NG_015839.2:g.76720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.38C>T MANE Select	ENSP00000310966.3:p.Ser13Phe
ENST00000309424.7:c.38C>T	ENSP00000310966.3:p.Ser13Phe
ENST00000589804.1:c.44C>T	ENSP00000465099.1:p.Ser15Phe
ENST00000590794.1:c.20+391C>T
ENST00000592852.1:c.-497C>T	ENSP00000467771.1:n.-497C>T
NM_001297590.1:c.44C>T	NP_001284519.1:p.Ser15Phe
NM_012099.1:c.38C>T	NP_036231.1:p.Ser13Phe
NM_001297590.2:c.44C>T	NP_001284519.1:p.Ser15Phe
NM_012099.2:c.38C>T	NP_036231.1:p.Ser13Phe
NM_001297590.3:c.44C>T	NP_001284519.1:p.Ser15Phe
NM_012099.3:c.38C>T MANE Select	NP_036231.1:p.Ser13Phe