Canonical Allele Identifier: CA414261423

Gene: GRIA3

Linked Data

• dbSNP Id: rs2044901166
• gnomAD v4: X-123326108-G-T
• MyVariant Identifiers: chrX:g.122459959G>T (hg19) ; chrX:g.123326108G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.123326108G>T , CM000685.2:g.123326108G>T	GRCh38
NC_000023.10:g.122459959G>T , CM000685.1:g.122459959G>T	GRCh37
NC_000023.9:g.122287640G>T	NCBI36
NG_009377.2:g.146866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620443.2:c.591G>T MANE Select	ENSP00000478489.1:p.Lys197Asn
ENST00000622768.5:c.591G>T MANE Plus Clinical	ENSP00000481554.1:p.Lys197Asn
ENST00000541091.5:c.591G>T	ENSP00000446440.2:p.Lys197Asn
ENST00000620443.1:c.591G>T	ENSP00000478489.1:p.Lys197Asn
ENST00000620581.4:c.591G>T	ENSP00000481875.1:p.Lys197Asn
ENST00000622768.4:c.591G>T	ENSP00000481554.1:p.Lys197Asn
NM_000828.4:c.591G>T	NP_000819.3:p.Lys197Asn
NM_007325.4:c.591G>T	NP_015564.4:p.Lys197Asn
NM_007325.5:c.591G>T MANE Select	NP_015564.5:p.Lys197Asn
NM_000828.5:c.591G>T MANE Plus Clinical	NP_000819.4:p.Lys197Asn