Canonical Allele Identifier: CA633334871

Gene: POLR1G

Linked Data

• dbSNP Id: rs1246409337
• gnomAD v2: 19-45910318-G-C
• gnomAD v3: 19-45407060-G-C
• gnomAD v4: 19-45407060-G-C
• MyVariant Identifiers: chr19:g.45910318G>C (hg19) ; chr19:g.45407060G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407060G>C , CM000681.2:g.45407060G>C	GRCh38
NC_000019.9:g.45910318G>C , CM000681.1:g.45910318G>C	GRCh37
NC_000019.8:g.50602158G>C	NCBI36
NG_015839.2:g.76769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.23-34G>C MANE Select	ENSP00000310966.3:n.23-34G>C
ENST00000309424.7:c.23-34G>C	ENSP00000310966.3:n.23-34G>C
ENST00000589804.1:c.29-34G>C	ENSP00000465099.1:n.29-34G>C
ENST00000590794.1:c.20+342G>C
ENST00000592852.1:c.-546G>C	ENSP00000467771.1:n.-546G>C
NM_001297590.1:c.29-34G>C	NP_001284519.1:n.29-34G>C
NM_012099.1:c.23-34G>C	NP_036231.1:n.23-34G>C
NM_001297590.2:c.29-34G>C	NP_001284519.1:n.29-34G>C
NM_012099.2:c.23-34G>C	NP_036231.1:n.23-34G>C
NM_001297590.3:c.29-34G>C	NP_001284519.1:n.29-34G>C
NM_012099.3:c.23-34G>C MANE Select	NP_036231.1:n.23-34G>C