Canonical Allele Identifier: CA120935
Gene: GRIA3 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.123427954C>A
GRCh37 chrX:g.122561805C>A
Revel Score:
ENST00000264357 0.790
ENST00000542149 0.790
ENST00000371256 0.790
ENST00000371251 0.790
ClinVar RCV:
RCV000011070
ClinVar Variation:
10357
dbSNP:
137852351
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.123427954C>A , CM000685.2:g.123427954C>A GRCh38
NC_000023.10:g.122561805C>A , CM000685.1:g.122561805C>A GRCh37
NC_000023.9:g.122389486C>A NCBI36
NG_009377.2:g.248712C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000620443.2:c.1891C>A MANE Select ENSP00000478489.1:p.Arg631Ser
ENST00000622768.5:c.1891C>A MANE Plus Clinical ENSP00000481554.1:p.Arg631Ser
ENST00000541091.5:c.1891C>A ENSP00000446440.2:p.Arg631Ser
ENST00000620443.1:c.1891C>A ENSP00000478489.1:p.Arg631Ser
ENST00000620581.4:c.1891C>A ENSP00000481875.1:p.Arg631Ser
ENST00000622768.4:c.1891C>A ENSP00000481554.1:p.Arg631Ser
NM_000828.4:c.1891C>A NP_000819.3:p.Arg631Ser
NM_007325.4:c.1891C>A NP_015564.4:p.Arg631Ser
XR_938574.1:n.5217+9296G>T
NM_007325.5:c.1891C>A MANE Select NP_015564.5:p.Arg631Ser
NM_000828.5:c.1891C>A MANE Plus Clinical NP_000819.4:p.Arg631Ser
Search 100 bp 5'
Search 100 bp 3'