Canonical Allele Identifier: CA090933
Gene: GRIA3 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.123253500T>C
GRCh37 chrX:g.122387351T>C
Revel Score:
ENST00000264357 0.906
ENST00000542149 0.906
ENST00000371256 0.906
ENST00000371251 0.906
ENST00000541091 0.906
gnomAD v2:
X:122387351 T / C
gnomAD v3:
X:123253500 T / C
gnomAD v4:
chrX-123253500-T-C
Joint Max Group AF 0.00006755 (NFE)
Genomes Max Group AF 0.00004844 (NFE)
Exomes Max Group AF 0.0000649 (NFE)
ClinVar RCV:
RCV000209928
RCV002515567
ClinVar Variation:
224091
dbSNP:
144902457
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.123253500T>C , CM000685.2:g.123253500T>C GRCh38
NC_000023.10:g.122387351T>C , CM000685.1:g.122387351T>C GRCh37
NC_000023.9:g.122215032T>C NCBI36
NG_009377.2:g.74258T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000620443.2:c.466T>C MANE Select ENSP00000478489.1:p.Tyr156His
ENST00000622768.5:c.466T>C MANE Plus Clinical ENSP00000481554.1:p.Tyr156His
ENST00000479118.1:n.442T>C
ENST00000541091.5:c.466T>C ENSP00000446440.2:p.Tyr156His
ENST00000620443.1:c.466T>C ENSP00000478489.1:p.Tyr156His
ENST00000620581.4:c.466T>C ENSP00000481875.1:p.Tyr156His
ENST00000622768.4:c.466T>C ENSP00000481554.1:p.Tyr156His
NM_000828.4:c.466T>C NP_000819.3:p.Tyr156His
NM_007325.4:c.466T>C NP_015564.4:p.Tyr156His
NM_007325.5:c.466T>C MANE Select NP_015564.5:p.Tyr156His
NM_000828.5:c.466T>C MANE Plus Clinical NP_000819.4:p.Tyr156His
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