Canonical Allele Identifier: CA305200203

Gene: EIF3G PPAN-P2RY11 P2RY11

Linked Data

• dbSNP Id: rs775993782
• gnomAD v3: 19-10115383-T-G
• gnomAD v4: 19-10115383-T-G
• MyVariant Identifiers: chr19:g.10226059T>G (hg19) ; chr19:g.10115383T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115383T>G , CM000681.2:g.10115383T>G	GRCh38
NC_000019.9:g.10226059T>G , CM000681.1:g.10226059T>G	GRCh37
NC_000019.8:g.10087059T>G	NCBI36
NG_047007.1:g.8863T>G
NG_051197.1:g.9542A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253108.9:c.947+96A>C (EIF3G) MANE Select	ENSP00000253108.3:n.947+96A>C
ENST00000253108.8:c.947+96A>C (EIF3G)	ENSP00000253108.3:n.947+96A>C
ENST00000590158.1:n.966+96A>C (EIF3G)
ENST00000593054.5:c.341+96A>C (EIF3G)	ENSP00000467187.1:n.341+96A>C
NM_001040664.2:c.*645T>G (PPAN-P2RY11)	NP_001035754.1:n.*645T>G
NM_001198690.1:c.*1529T>G (PPAN-P2RY11)	NP_001185619.1:n.*1529T>G
NM_002566.4:c.*645T>G (P2RY11)	NP_002557.2:n.*645T>G
NM_003755.3:c.947+96A>C (EIF3G)	NP_003746.2:n.947+96A>C
NM_003755.4:c.947+96A>C (EIF3G)	NP_003746.2:n.947+96A>C
NM_003755.5:c.947+96A>C (EIF3G) MANE Select	NP_003746.2:n.947+96A>C