Canonical Allele Identifier: CA406345481

Gene: POLR1G

Linked Data

• MyVariant Identifiers: chr19:g.45910477G>T (hg19) ; chr19:g.45407219G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407219G>T , CM000681.2:g.45407219G>T	GRCh38
NC_000019.9:g.45910477G>T , CM000681.1:g.45910477G>T	GRCh37
NC_000019.8:g.50602317G>T	NCBI36
NG_015839.2:g.76610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.148G>T MANE Select	ENSP00000310966.3:p.Asp50Tyr
ENST00000309424.7:c.148G>T	ENSP00000310966.3:p.Asp50Tyr
ENST00000589804.1:c.154G>T	ENSP00000465099.1:p.Asp52Tyr
ENST00000590794.1:c.20+501G>T
ENST00000592852.1:c.-387G>T	ENSP00000467771.1:n.-387G>T
NM_001297590.1:c.154G>T	NP_001284519.1:p.Asp52Tyr
NM_012099.1:c.148G>T	NP_036231.1:p.Asp50Tyr
NM_001297590.2:c.154G>T	NP_001284519.1:p.Asp52Tyr
NM_012099.2:c.148G>T	NP_036231.1:p.Asp50Tyr
NM_001297590.3:c.154G>T	NP_001284519.1:p.Asp52Tyr
NM_012099.3:c.148G>T MANE Select	NP_036231.1:p.Asp50Tyr