Canonical Allele Identifier: CA882712503

Gene: POLR1G

Linked Data

• dbSNP Id: rs1416443758
• gnomAD v3: 19-45406896-C-T
• gnomAD v4: 19-45406896-C-T
• MyVariant Identifiers: chr19:g.45910154C>T (hg19) ; chr19:g.45406896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406896C>T , CM000681.2:g.45406896C>T	GRCh38
NC_000019.9:g.45910154C>T , CM000681.1:g.45910154C>T	GRCh37
NC_000019.8:g.50601994C>T	NCBI36
NG_015839.2:g.76933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.22+178C>T MANE Select	ENSP00000310966.3:n.22+178C>T
ENST00000309424.7:c.22+178C>T	ENSP00000310966.3:n.22+178C>T
ENST00000589804.1:c.28+172C>T	ENSP00000465099.1:n.28+172C>T
ENST00000590794.1:c.20+178C>T
ENST00000592852.1:c.-710C>T	ENSP00000467771.1:n.-710C>T
NM_001297590.1:c.28+172C>T	NP_001284519.1:n.28+172C>T
NM_012099.1:c.22+178C>T	NP_036231.1:n.22+178C>T
NM_001297590.2:c.28+172C>T	NP_001284519.1:n.28+172C>T
NM_012099.2:c.22+178C>T	NP_036231.1:n.22+178C>T
NM_001297590.3:c.28+172C>T	NP_001284519.1:n.28+172C>T
NM_012099.3:c.22+178C>T MANE Select	NP_036231.1:n.22+178C>T