Canonical Allele Identifier: CA770171
Gene: GRIK3 HGNC NCBI
COSMIC:
COSM4418751 (not active)
COSM4418752 (not active)
MyVariant.info:
GRCh38 chr1:g.36859876A>C
GRCh37 chr1:g.37325477A>C
Revel Score:
ENST00000373091 (MANE Select) 0.023
ENST00000373093 0.023
gnomAD v2:
1:37325477 A / C
gnomAD v3:
1:36859876 A / C
gnomAD v4:
chr1-36859876-A-C
Joint Max Group AF 0.56104123 (AFR)
Genomes Max Group AF 0.55315392 (AFR)
Exomes Max Group AF 0.56666233 (AFR)
dbSNP:
6691840
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.36859876A>C , CM000663.2:g.36859876A>C GRCh38
NC_000001.10:g.37325477A>C , CM000663.1:g.37325477A>C GRCh37
NC_000001.9:g.37098064A>C NCBI36
NG_011447.1:g.179368T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373091.8:c.928T>G MANE Select ENSP00000362183.3:p.Ser310Ala
ENST00000373091.7:c.928T>G ENSP00000362183.3:p.Ser310Ala
ENST00000373093.4:c.928T>G ENSP00000362185.4:p.Ser310Ala
NM_000831.3:c.928T>G NP_000822.2:p.Ser310Ala
XM_011541294.1:c.928T>G XP_011539596.1:p.Ser310Ala
NM_000831.4:c.928T>G MANE Select NP_000822.2:p.Ser310Ala
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