Canonical Allele Identifier: CA770172
Gene: GRIK3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.36859876A>G
GRCh37 chr1:g.37325477A>G
Revel Score:
ENST00000373091 (MANE Select) 0.042
ENST00000373093 0.042
gnomAD v2:
1:37325477 A / G
gnomAD v3:
1:36859876 A / G
gnomAD v4:
chr1-36859876-A-G
Joint Max Group AF 0.00061485 (EAS)
Genomes Max Group AF 0.00077068 (EAS)
Exomes Max Group AF 0.00052207 (EAS)
dbSNP:
6691840
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000373091.8:c.928T>C MANE Select ENSP00000362183.3:p.Ser310Pro
ENST00000373091.7:c.928T>C ENSP00000362183.3:p.Ser310Pro
ENST00000373093.4:c.928T>C ENSP00000362185.4:p.Ser310Pro
NM_000831.3:c.928T>C NP_000822.2:p.Ser310Pro
XM_011541294.1:c.928T>C XP_011539596.1:p.Ser310Pro
NM_000831.4:c.928T>C MANE Select NP_000822.2:p.Ser310Pro
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