Canonical Allele Identifier: CA2585795636

Gene: POLR1G

Linked Data

• gnomAD v4: 19-45406889-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406889G>T , CM000681.2:g.45406889G>T	GRCh38
NC_000019.9:g.45910147G>T , CM000681.1:g.45910147G>T	GRCh37
NC_000019.8:g.50601987G>T	NCBI36
NG_015839.2:g.76940C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.22+171G>T MANE Select	ENSP00000310966.3:n.22+171G>T
ENST00000309424.7:c.22+171G>T	ENSP00000310966.3:n.22+171G>T
ENST00000589804.1:c.28+165G>T	ENSP00000465099.1:n.28+165G>T
ENST00000590794.1:c.20+171G>T
ENST00000592852.1:c.-717G>T	ENSP00000467771.1:n.-717G>T
NM_001297590.1:c.28+165G>T	NP_001284519.1:n.28+165G>T
NM_012099.1:c.22+171G>T	NP_036231.1:n.22+171G>T
NM_001297590.2:c.28+165G>T	NP_001284519.1:n.28+165G>T
NM_012099.2:c.22+171G>T	NP_036231.1:n.22+171G>T
NM_001297590.3:c.28+165G>T	NP_001284519.1:n.28+165G>T
NM_012099.3:c.22+171G>T MANE Select	NP_036231.1:n.22+171G>T