Canonical Allele Identifier: CA631709048
Gene: EIF3G HGNC NCBI
PPAN-P2RY11 HGNC NCBI
P2RY11 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.10115380G>A
GRCh37 chr19:g.10226056G>A
gnomAD v2:
19:10226056 G / A
gnomAD v3:
19:10115380 G / A
gnomAD v4:
chr19-10115380-G-A
Joint Max Group AF 0.00000348 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000234 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10115380G>A , CM000681.2:g.10115380G>A GRCh38
NC_000019.9:g.10226056G>A , CM000681.1:g.10226056G>A GRCh37
NC_000019.8:g.10087056G>A NCBI36
NG_047007.1:g.8860G>A
NG_051197.1:g.9545C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253108.9:c.947+99C>T (EIF3G) MANE Select ENSP00000253108.3:n.947+99C>T
ENST00000253108.8:c.947+99C>T (EIF3G) ENSP00000253108.3:n.947+99C>T
ENST00000590158.1:n.966+99C>T (EIF3G)
ENST00000593054.5:c.341+99C>T (EIF3G) ENSP00000467187.1:n.341+99C>T
NM_001040664.2:c.*642G>A (PPAN-P2RY11) NP_001035754.1:n.*642G>A
NM_001198690.1:c.*1526G>A (PPAN-P2RY11) NP_001185619.1:n.*1526G>A
NM_002566.4:c.*642G>A (P2RY11) NP_002557.2:n.*642G>A
NM_003755.3:c.947+99C>T (EIF3G) NP_003746.2:n.947+99C>T
NM_003755.4:c.947+99C>T (EIF3G) NP_003746.2:n.947+99C>T
NM_003755.5:c.947+99C>T (EIF3G) MANE Select NP_003746.2:n.947+99C>T
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