Canonical Allele Identifier: CA308937275

Gene: POLR1G

Linked Data

• dbSNP Id: rs991684142
• gnomAD v3: 19-45406891-C-G
• gnomAD v4: 19-45406891-C-G
• MyVariant Identifiers: chr19:g.45910149C>G (hg19) ; chr19:g.45406891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406891C>G , CM000681.2:g.45406891C>G	GRCh38
NC_000019.9:g.45910149C>G , CM000681.1:g.45910149C>G	GRCh37
NC_000019.8:g.50601989C>G	NCBI36
NG_015839.2:g.76938G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.22+173C>G MANE Select	ENSP00000310966.3:n.22+173C>G
ENST00000309424.7:c.22+173C>G	ENSP00000310966.3:n.22+173C>G
ENST00000589804.1:c.28+167C>G	ENSP00000465099.1:n.28+167C>G
ENST00000590794.1:c.20+173C>G
ENST00000592852.1:c.-715C>G	ENSP00000467771.1:n.-715C>G
NM_001297590.1:c.28+167C>G	NP_001284519.1:n.28+167C>G
NM_012099.1:c.22+173C>G	NP_036231.1:n.22+173C>G
NM_001297590.2:c.28+167C>G	NP_001284519.1:n.28+167C>G
NM_012099.2:c.22+173C>G	NP_036231.1:n.22+173C>G
NM_001297590.3:c.28+167C>G	NP_001284519.1:n.28+167C>G
NM_012099.3:c.22+173C>G MANE Select	NP_036231.1:n.22+173C>G