Canonical Allele Identifier: CA406345273

Gene: POLR1G

Linked Data

• gnomAD v4: 19-45407118-C-T
• MyVariant Identifiers: chr19:g.45910376C>T (hg19) ; chr19:g.45407118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407118C>T , CM000681.2:g.45407118C>T	GRCh38
NC_000019.9:g.45910376C>T , CM000681.1:g.45910376C>T	GRCh37
NC_000019.8:g.50602216C>T	NCBI36
NG_015839.2:g.76711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.47C>T MANE Select	ENSP00000310966.3:p.Pro16Leu
ENST00000309424.7:c.47C>T	ENSP00000310966.3:p.Pro16Leu
ENST00000589804.1:c.53C>T	ENSP00000465099.1:p.Pro18Leu
ENST00000590794.1:c.20+400C>T
ENST00000592852.1:c.-488C>T	ENSP00000467771.1:n.-488C>T
NM_001297590.1:c.53C>T	NP_001284519.1:p.Pro18Leu
NM_012099.1:c.47C>T	NP_036231.1:p.Pro16Leu
NM_001297590.2:c.53C>T	NP_001284519.1:p.Pro18Leu
NM_012099.2:c.47C>T	NP_036231.1:p.Pro16Leu
NM_001297590.3:c.53C>T	NP_001284519.1:p.Pro18Leu
NM_012099.3:c.47C>T MANE Select	NP_036231.1:p.Pro16Leu