Canonical Allele Identifier: CA9468152
Community Standard Title: NM_002088.5(GRIK5):c.2353G>C (p.Gly785Arg)
Gene: GRIK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42003594C>G , CM000681.2:g.42003594C>G GRCh38
NC_000019.9:g.42507746C>G , CM000681.1:g.42507746C>G GRCh37
NC_000019.8:g.47199586C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002088.5:c.2353G>C MANE Select NP_002079.3:p.Gly785Arg
ENST00000593562.6:c.2353G>C MANE Select ENSP00000470251.1:p.Gly785Arg
NM_001301030.1:c.2353G>C NP_001287959.1:p.Gly785Arg
NM_001301030.2:c.2353G>C NP_001287959.1:p.Gly785Arg
NM_002088.4:c.2353G>C NP_002079.3:p.Gly785Arg
ENST00000262895.7:c.2353G>C ENSP00000262895.2:p.Gly785Arg
ENST00000301218.8:c.2353G>C ENSP00000301218.3:p.Gly785Arg
ENST00000454993.6:n.1230G>C
ENST00000593562.5:c.2353G>C ENSP00000470251.1:p.Gly785Arg
ENST00000602210.1:n.171G>C
XM_005258821.2:c.2353G>C XP_005258878.1:p.Gly785Arg
XM_005258821.3:c.2353G>C XP_005258878.1:p.Gly785Arg
XM_011526862.1:c.2356G>C XP_011525164.1:p.Gly786Arg
XM_011526862.2:c.2356G>C XP_011525164.1:p.Gly786Arg
XM_011526863.1:c.2353G>C XP_011525165.1:p.Gly785Arg
XM_011526863.2:c.2353G>C XP_011525165.1:p.Gly785Arg
XM_011526864.1:c.2239G>C XP_011525166.1:p.Gly747Arg
XM_011526865.1:c.2356G>C XP_011525167.1:p.Gly786Arg
XM_011526866.1:c.2152G>C XP_011525168.1:p.Gly718Arg
XM_011526867.1:c.2149G>C XP_011525169.1:p.Gly717Arg
XM_011526868.1:c.2113G>C XP_011525170.1:p.Gly705Arg
XM_017026713.1:c.2152G>C XP_016882202.1:p.Gly718Arg