Canonical Allele Identifier: CA414256204

Gene: GRIA3

Linked Data

• ClinVar Variation Id: 520927
• ClinVar RCV Id: RCV000622505
• dbSNP Id: rs1556317780
• MyVariant Identifiers: chrX:g.122551254G>C (hg19) ; chrX:g.123417403G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.123417403G>C , CM000685.2:g.123417403G>C	GRCh38
NC_000023.10:g.122551254G>C , CM000685.1:g.122551254G>C	GRCh37
NC_000023.9:g.122378935G>C	NCBI36
NG_009377.2:g.238161G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620443.2:c.1502G>C MANE Select	ENSP00000478489.1:p.Arg501Thr
ENST00000622768.5:c.1502G>C MANE Plus Clinical	ENSP00000481554.1:p.Arg501Thr
ENST00000541091.5:c.1502G>C	ENSP00000446440.2:p.Arg501Thr
ENST00000620443.1:c.1502G>C	ENSP00000478489.1:p.Arg501Thr
ENST00000620581.4:c.1502G>C	ENSP00000481875.1:p.Arg501Thr
ENST00000622768.4:c.1502G>C	ENSP00000481554.1:p.Arg501Thr
NM_000828.4:c.1502G>C	NP_000819.3:p.Arg501Thr
NM_007325.4:c.1502G>C	NP_015564.4:p.Arg501Thr
XR_938574.1:n.5217+19847C>G
NM_007325.5:c.1502G>C MANE Select	NP_015564.5:p.Arg501Thr
NM_000828.5:c.1502G>C MANE Plus Clinical	NP_000819.4:p.Arg501Thr