Canonical Allele Identifier: CA335236664
Gene: GRIA3 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.123361111C>T
GRCh37 chrX:g.122494962C>T
gnomAD v2:
X:122494962 C / T
gnomAD v3:
X:123361111 C / T
gnomAD v4:
chrX-123361111-C-T
Joint Max Group AF 0.51107597 (MID)
Genomes Max Group AF 0.44653268 (NFE)
Exomes Max Group AF 0.28144967 (NFE)
dbSNP:
2227098
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.123361111C>T , CM000685.2:g.123361111C>T GRCh38
NC_000023.10:g.122494962C>T , CM000685.1:g.122494962C>T GRCh37
NC_000023.9:g.122322643C>T NCBI36
NG_009377.2:g.181869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000620443.2:c.750+6148C>T MANE Select ENSP00000478489.1:n.750+6148C>T
ENST00000622768.5:c.750+6148C>T MANE Plus Clinical ENSP00000481554.1:n.750+6148C>T
ENST00000477389.1:n.426-132C>T
ENST00000541091.5:c.750+6148C>T ENSP00000446440.2:n.750+6148C>T
ENST00000620443.1:c.750+6148C>T ENSP00000478489.1:n.750+6148C>T
ENST00000620581.4:c.750+6148C>T ENSP00000481875.1:n.750+6148C>T
ENST00000622768.4:c.750+6148C>T ENSP00000481554.1:n.750+6148C>T
NM_000828.4:c.750+6148C>T NP_000819.3:n.750+6148C>T
NM_007325.4:c.750+6148C>T NP_015564.4:n.750+6148C>T
NM_007325.5:c.750+6148C>T MANE Select NP_015564.5:n.750+6148C>T
NM_000828.5:c.750+6148C>T MANE Plus Clinical NP_000819.4:n.750+6148C>T
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