Canonical Allele Identifier: CA993413571

Gene: EIF3G P2RY11 PPAN-P2RY11

Linked Data

• dbSNP Id: rs1599324308
• gnomAD v3: 19-10115332-G-C
• gnomAD v4: 19-10115332-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115332G>C , CM000681.2:g.10115332G>C	GRCh38
NC_000019.9:g.10226008G>C , CM000681.1:g.10226008G>C	GRCh37
NC_000019.8:g.10087008G>C	NCBI36
NG_047007.1:g.8812G>C
NG_051197.1:g.9593C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253108.9:c.947+147C>G (EIF3G) MANE Select	ENSP00000253108.3:n.947+147C>G
ENST00000321826.5:c.*594G>C (P2RY11) MANE Select	ENSP00000323872.4:n.*594G>C
ENST00000253108.8:c.947+147C>G (EIF3G)	ENSP00000253108.3:n.947+147C>G
ENST00000321826.4:c.*594G>C (P2RY11)	ENSP00000323872.4:n.*594G>C
ENST00000590158.1:n.966+147C>G (EIF3G)
ENST00000593054.5:c.341+147C>G (EIF3G)	ENSP00000467187.1:n.341+147C>G
NM_001040664.2:c.*594G>C (PPAN-P2RY11)	NP_001035754.1:n.*594G>C
NM_001198690.1:c.*1478G>C (PPAN-P2RY11)	NP_001185619.1:n.*1478G>C
NM_002566.4:c.*594G>C (P2RY11)	NP_002557.2:n.*594G>C
NM_003755.3:c.947+147C>G (EIF3G)	NP_003746.2:n.947+147C>G
NM_003755.4:c.947+147C>G (EIF3G)	NP_003746.2:n.947+147C>G
NM_002566.5:c.*594G>C (P2RY11) MANE Select	NP_002557.2:n.*594G>C
NM_003755.5:c.947+147C>G (EIF3G) MANE Select	NP_003746.2:n.947+147C>G
NM_001040664.3:c.*594G>C (PPAN-P2RY11)	NP_001035754.1:n.*594G>C
NM_001198690.2:c.*1478G>C (PPAN-P2RY11)	NP_001185619.1:n.*1478G>C