Canonical Allele Identifier: CA2585795612

Gene: POLR1G

Linked Data

• gnomAD v4: 19-45406863-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406863A>C , CM000681.2:g.45406863A>C	GRCh38
NC_000019.9:g.45910121A>C , CM000681.1:g.45910121A>C	GRCh37
NC_000019.8:g.50601961A>C	NCBI36
NG_015839.2:g.76966T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.22+145A>C MANE Select	ENSP00000310966.3:n.22+145A>C
ENST00000309424.7:c.22+145A>C	ENSP00000310966.3:n.22+145A>C
ENST00000589804.1:c.28+139A>C	ENSP00000465099.1:n.28+139A>C
ENST00000590794.1:c.20+145A>C
ENST00000592852.1:c.-743A>C	ENSP00000467771.1:n.-743A>C
NM_001297590.1:c.28+139A>C	NP_001284519.1:n.28+139A>C
NM_012099.1:c.22+145A>C	NP_036231.1:n.22+145A>C
NM_001297590.2:c.28+139A>C	NP_001284519.1:n.28+139A>C
NM_012099.2:c.22+145A>C	NP_036231.1:n.22+145A>C
NM_001297590.3:c.28+139A>C	NP_001284519.1:n.28+139A>C
NM_012099.3:c.22+145A>C MANE Select	NP_036231.1:n.22+145A>C