Canonical Allele Identifier: CA2585795854

Gene: POLR1G ERCC1

Linked Data

• gnomAD v4: 19-45407333-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407333G>T , CM000681.2:g.45407333G>T	GRCh38
NC_000019.9:g.45910591G>T , CM000681.1:g.45910591G>T	GRCh37
NC_000019.8:g.50602431G>T	NCBI36
NG_015839.2:g.76496C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309424.8:c.164+98G>T (POLR1G) MANE Select	ENSP00000310966.3:n.164+98G>T
ENST00000300853.7:c.*2342C>A (ERCC1)	ENSP00000300853.2:n.*2342C>A
ENST00000309424.7:c.164+98G>T (POLR1G)	ENSP00000310966.3:n.164+98G>T
ENST00000589804.1:c.170+98G>T (POLR1G)	ENSP00000465099.1:n.170+98G>T
ENST00000590794.1:c.20+615G>T (POLR1G)
ENST00000592852.1:c.-371+98G>T (POLR1G)	ENSP00000467771.1:n.-371+98G>T
NM_001166049.1:c.*2342C>A (ERCC1)	NP_001159521.1:n.*2342C>A
NM_001297590.1:c.170+98G>T (POLR1G)	NP_001284519.1:n.170+98G>T
NM_001983.3:c.*2342C>A (ERCC1)	NP_001974.1:n.*2342C>A
NM_012099.1:c.164+98G>T (POLR1G)	NP_036231.1:n.164+98G>T
NM_001297590.2:c.170+98G>T (POLR1G)	NP_001284519.1:n.170+98G>T
NM_012099.2:c.164+98G>T (POLR1G)	NP_036231.1:n.164+98G>T
NM_001297590.3:c.170+98G>T (POLR1G)	NP_001284519.1:n.170+98G>T
NM_012099.3:c.164+98G>T (POLR1G) MANE Select	NP_036231.1:n.164+98G>T