Canonical Allele Identifier: CA16608259
Gene: GRIA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 383739
ClinVar RCV Id: RCV000426311 RCV000579220 RCV000990938 RCV002318435
dbSNP Id: rs1057521721
MyVariant Identifiers: chrX:g.122561871G>A (hg19) chrX:g.123428020G>A (hg38)
PubMed: PMID:25985138 PMID:29016847
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.123428020G>A , CM000685.2:g.123428020G>A GRCh38
NC_000023.10:g.122561871G>A , CM000685.1:g.122561871G>A GRCh37
NC_000023.9:g.122389552G>A NCBI36
NG_009377.2:g.248778G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000620443.2:c.1957G>A MANE Select ENSP00000478489.1:p.Ala653Thr
ENST00000622768.5:c.1957G>A MANE Plus Clinical ENSP00000481554.1:p.Ala653Thr
ENST00000541091.5:c.1957G>A ENSP00000446440.2:p.Ala653Thr
ENST00000620443.1:c.1957G>A ENSP00000478489.1:p.Ala653Thr
ENST00000620581.4:c.1957G>A ENSP00000481875.1:p.Ala653Thr
ENST00000622768.4:c.1957G>A ENSP00000481554.1:p.Ala653Thr
NM_000828.4:c.1957G>A NP_000819.3:p.Ala653Thr
NM_007325.4:c.1957G>A NP_015564.4:p.Ala653Thr
XR_938574.1:n.5217+9230C>T
NM_007325.5:c.1957G>A MANE Select NP_015564.5:p.Ala653Thr
NM_000828.5:c.1957G>A MANE Plus Clinical NP_000819.4:p.Ala653Thr
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