Canonical Allele Identifier: CA2585795608

Gene: POLR1G

Linked Data

• gnomAD v4: 19-45406860-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406860T>G , CM000681.2:g.45406860T>G	GRCh38
NC_000019.9:g.45910118T>G , CM000681.1:g.45910118T>G	GRCh37
NC_000019.8:g.50601958T>G	NCBI36
NG_015839.2:g.76969A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.22+142T>G MANE Select	ENSP00000310966.3:n.22+142T>G
ENST00000309424.7:c.22+142T>G	ENSP00000310966.3:n.22+142T>G
ENST00000589804.1:c.28+136T>G	ENSP00000465099.1:n.28+136T>G
ENST00000590794.1:c.20+142T>G
ENST00000592852.1:c.-746T>G	ENSP00000467771.1:n.-746T>G
NM_001297590.1:c.28+136T>G	NP_001284519.1:n.28+136T>G
NM_012099.1:c.22+142T>G	NP_036231.1:n.22+142T>G
NM_001297590.2:c.28+136T>G	NP_001284519.1:n.28+136T>G
NM_012099.2:c.22+142T>G	NP_036231.1:n.22+142T>G
NM_001297590.3:c.28+136T>G	NP_001284519.1:n.28+136T>G
NM_012099.3:c.22+142T>G MANE Select	NP_036231.1:n.22+142T>G