Canonical Allele Identifier: CA2585795641

Gene: POLR1G

Linked Data

• gnomAD v4: 19-45406894-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406894C>T , CM000681.2:g.45406894C>T	GRCh38
NC_000019.9:g.45910152C>T , CM000681.1:g.45910152C>T	GRCh37
NC_000019.8:g.50601992C>T	NCBI36
NG_015839.2:g.76935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.22+176C>T MANE Select	ENSP00000310966.3:n.22+176C>T
ENST00000309424.7:c.22+176C>T	ENSP00000310966.3:n.22+176C>T
ENST00000589804.1:c.28+170C>T	ENSP00000465099.1:n.28+170C>T
ENST00000590794.1:c.20+176C>T
ENST00000592852.1:c.-712C>T	ENSP00000467771.1:n.-712C>T
NM_001297590.1:c.28+170C>T	NP_001284519.1:n.28+170C>T
NM_012099.1:c.22+176C>T	NP_036231.1:n.22+176C>T
NM_001297590.2:c.28+170C>T	NP_001284519.1:n.28+170C>T
NM_012099.2:c.22+176C>T	NP_036231.1:n.22+176C>T
NM_001297590.3:c.28+170C>T	NP_001284519.1:n.28+170C>T
NM_012099.3:c.22+176C>T MANE Select	NP_036231.1:n.22+176C>T