Canonical Allele Identifier: CA394705879

Gene: GRIN2A

Linked Data

• dbSNP Id: rs778429009
• gnomAD v4: 16-9763359-C-A
• MyVariant Identifiers: chr16:g.9857216C>A (hg19) ; chr16:g.9763359C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763359C>A , CM000678.2:g.9763359C>A	GRCh38
NC_000016.9:g.9857216C>A , CM000678.1:g.9857216C>A	GRCh37
NC_000016.8:g.9764717C>A	NCBI36
NG_011812.1:g.424396G>T
NG_011812.2:g.424396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4185G>T MANE Select	ENSP00000332549.3:p.Ala1395=
ENST00000535259.6:c.3371G>T	ENSP00000441572.3:p.Arg1124Leu
ENST00000636273.2:n.3435G>T
ENST00000674742.1:c.3714G>T	ENSP00000502200.1:p.Ala1238=
ENST00000675398.1:c.*1555G>T	ENSP00000502752.1:n.*1555G>T
ENST00000330684.3:c.4185G>T	ENSP00000332549.3:p.Ala1395=
ENST00000396573.6:c.4185G>T	ENSP00000379818.2:p.Ala1395=
ENST00000396575.6:c.3774G>T	ENSP00000379820.3:p.Ala1258=
ENST00000461292.3:n.3481G>T
ENST00000535259.5:c.3431G>T	ENSP00000441572.2:p.Arg1144Leu
ENST00000562109.5:c.3842G>T	ENSP00000454998.1:p.Arg1281Leu
NM_000833.4:c.4185G>T	NP_000824.1:p.Ala1395=
NM_001134407.2:c.4185G>T	NP_001127879.1:p.Ala1395=
NM_001134408.2:c.3842G>T	NP_001127880.1:p.Arg1281Leu
XM_011522456.1:c.4026G>T	XP_011520758.1:p.Ala1342=
XM_011522457.1:c.3927G>T	XP_011520759.1:p.Ala1309=
XM_011522458.1:c.3714G>T	XP_011520760.1:p.Ala1238=
XM_011522459.1:c.3714G>T	XP_011520761.1:p.Ala1238=
XM_011522460.1:c.3714G>T	XP_011520762.1:p.Ala1238=
XM_011522461.1:c.3842G>T	XP_011520763.1:p.Arg1281Leu
XM_011522458.3:c.3714G>T	XP_011520760.1:p.Ala1238=
XM_011522461.3:c.3842G>T	XP_011520763.1:p.Arg1281Leu
XM_017023172.1:c.4341G>T	XP_016878661.1:p.Ala1447=
XM_017023173.1:c.3998G>T	XP_016878662.1:p.Arg1333Leu
NM_001134407.3:c.4185G>T MANE Select	NP_001127879.1:p.Ala1395=
NM_000833.5:c.4185G>T	NP_000824.1:p.Ala1395=