Canonical Allele Identifier: CA414264575

Gene: GRIA3

Linked Data

• ClinVar Variation Id: 984612
• ClinVar RCV Id: RCV001264709 ; RCV001570548 ; RCV001843576
• dbSNP Id: rs2045826576
• MyVariant Identifiers: chrX:g.122598737G>A (hg19) ; chrX:g.123464886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.123464886G>A , CM000685.2:g.123464886G>A	GRCh38
NC_000023.10:g.122598737G>A , CM000685.1:g.122598737G>A	GRCh37
NC_000023.9:g.122426418G>A	NCBI36
NG_009377.2:g.285644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620443.2:c.2098G>A MANE Select	ENSP00000478489.1:p.Glu700Lys
ENST00000622768.5:c.2098G>A MANE Plus Clinical	ENSP00000481554.1:p.Glu700Lys
ENST00000541091.5:c.2098G>A	ENSP00000446440.2:p.Glu700Lys
ENST00000620443.1:c.2098G>A	ENSP00000478489.1:p.Glu700Lys
ENST00000620581.4:c.2098G>A	ENSP00000481875.1:p.Glu700Lys
ENST00000622768.4:c.2098G>A	ENSP00000481554.1:p.Glu700Lys
NM_000828.4:c.2098G>A	NP_000819.3:p.Glu700Lys
NM_007325.4:c.2098G>A	NP_015564.4:p.Glu700Lys
XR_938574.1:n.4959+1868C>T
NM_007325.5:c.2098G>A MANE Select	NP_015564.5:p.Glu700Lys
NM_000828.5:c.2098G>A MANE Plus Clinical	NP_000819.4:p.Glu700Lys