Canonical Allele Identifier: CA305200141

Gene: EIF3G P2RY11 PPAN-P2RY11

Linked Data

• dbSNP Id: rs746930638
• gnomAD v3: 19-10115330-C-T
• gnomAD v4: 19-10115330-C-T
• MyVariant Identifiers: chr19:g.10226006C>T (hg19) ; chr19:g.10115330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115330C>T , CM000681.2:g.10115330C>T	GRCh38
NC_000019.9:g.10226006C>T , CM000681.1:g.10226006C>T	GRCh37
NC_000019.8:g.10087006C>T	NCBI36
NG_047007.1:g.8810C>T
NG_051197.1:g.9595G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253108.9:c.947+149G>A (EIF3G) MANE Select	ENSP00000253108.3:n.947+149G>A
ENST00000321826.5:c.*592C>T (P2RY11) MANE Select	ENSP00000323872.4:n.*592C>T
ENST00000253108.8:c.947+149G>A (EIF3G)	ENSP00000253108.3:n.947+149G>A
ENST00000321826.4:c.*592C>T (P2RY11)	ENSP00000323872.4:n.*592C>T
ENST00000590158.1:n.966+149G>A (EIF3G)
ENST00000593054.5:c.341+149G>A (EIF3G)	ENSP00000467187.1:n.341+149G>A
NM_001040664.2:c.*592C>T (PPAN-P2RY11)	NP_001035754.1:n.*592C>T
NM_001198690.1:c.*1476C>T (PPAN-P2RY11)	NP_001185619.1:n.*1476C>T
NM_002566.4:c.*592C>T (P2RY11)	NP_002557.2:n.*592C>T
NM_003755.3:c.947+149G>A (EIF3G)	NP_003746.2:n.947+149G>A
NM_003755.4:c.947+149G>A (EIF3G)	NP_003746.2:n.947+149G>A
NM_002566.5:c.*592C>T (P2RY11) MANE Select	NP_002557.2:n.*592C>T
NM_003755.5:c.947+149G>A (EIF3G) MANE Select	NP_003746.2:n.947+149G>A
NM_001040664.3:c.*592C>T (PPAN-P2RY11)	NP_001035754.1:n.*592C>T
NM_001198690.2:c.*1476C>T (PPAN-P2RY11)	NP_001185619.1:n.*1476C>T