Canonical Allele Identifier: CA185977
Gene: EIF3G HGNC NCBI
PPAN-P2RY11 HGNC NCBI
P2RY11 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.10115376G>A
GRCh37 chr19:g.10226052G>A
gnomAD v2:
19:10226052 G / A
gnomAD v3:
19:10115376 G / A
gnomAD v4:
chr19-10115376-G-A
Joint Max Group AF 0.67791852 (EAS)
Genomes Max Group AF 0.67734622 (EAS)
Exomes Max Group AF 0.68880731 (AMR)
ClinVar RCV:
RCV000161132
ClinVar Variation:
180728
dbSNP:
2305795
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10115376G>A , CM000681.2:g.10115376G>A GRCh38
NC_000019.9:g.10226052G>A , CM000681.1:g.10226052G>A GRCh37
NC_000019.8:g.10087052G>A NCBI36
NG_047007.1:g.8856G>A
NG_051197.1:g.9549C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253108.9:c.947+103C>T (EIF3G) MANE Select ENSP00000253108.3:n.947+103C>T
ENST00000253108.8:c.947+103C>T (EIF3G) ENSP00000253108.3:n.947+103C>T
ENST00000590158.1:n.966+103C>T (EIF3G)
ENST00000593054.5:c.341+103C>T (EIF3G) ENSP00000467187.1:n.341+103C>T
NM_001040664.2:c.*638G>A (PPAN-P2RY11) NP_001035754.1:n.*638G>A
NM_001198690.1:c.*1522G>A (PPAN-P2RY11) NP_001185619.1:n.*1522G>A
NM_002566.4:c.*638G>A (P2RY11) NP_002557.2:n.*638G>A
NM_003755.3:c.947+103C>T (EIF3G) NP_003746.2:n.947+103C>T
NM_003755.4:c.947+103C>T (EIF3G) NP_003746.2:n.947+103C>T
NM_003755.5:c.947+103C>T (EIF3G) MANE Select NP_003746.2:n.947+103C>T
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