Canonical Allele Identifier: CA394706421
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs1567275622
gnomAD v4: 16-9763559-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763559A>T , CM000678.2:g.9763559A>T GRCh38
NC_000016.9:g.9857416A>T , CM000678.1:g.9857416A>T GRCh37
NC_000016.8:g.9764917A>T NCBI36
NG_011812.1:g.424196T>A
NG_011812.2:g.424196T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.3985T>A MANE Select ENSP00000332549.3:p.Phe1329Ile
ENST00000535259.6:c.3302-131T>A ENSP00000441572.3:n.3302-131T>A
ENST00000636273.2:n.3366-131T>A
ENST00000674742.1:c.3514T>A ENSP00000502200.1:p.Phe1172Ile
ENST00000675398.1:c.*1355T>A ENSP00000502752.1:n.*1355T>A
ENST00000330684.3:c.3985T>A ENSP00000332549.3:p.Phe1329Ile
ENST00000396573.6:c.3985T>A ENSP00000379818.2:p.Phe1329Ile
ENST00000396575.6:c.3574T>A ENSP00000379820.3:p.Phe1192Ile
ENST00000461292.3:n.3412-131T>A
ENST00000535259.5:c.3362-131T>A ENSP00000441572.2:n.3362-131T>A
ENST00000562109.5:c.3773-131T>A ENSP00000454998.1:n.3773-131T>A
NM_000833.4:c.3985T>A NP_000824.1:p.Phe1329Ile
NM_001134407.2:c.3985T>A NP_001127879.1:p.Phe1329Ile
NM_001134408.2:c.3773-131T>A NP_001127880.1:n.3773-131T>A
XM_011522456.1:c.3826T>A XP_011520758.1:p.Phe1276Ile
XM_011522457.1:c.3727T>A XP_011520759.1:p.Phe1243Ile
XM_011522458.1:c.3514T>A XP_011520760.1:p.Phe1172Ile
XM_011522459.1:c.3514T>A XP_011520761.1:p.Phe1172Ile
XM_011522460.1:c.3514T>A XP_011520762.1:p.Phe1172Ile
XM_011522461.1:c.3773-131T>A XP_011520763.1:n.3773-131T>A
XM_011522458.3:c.3514T>A XP_011520760.1:p.Phe1172Ile
XM_011522461.3:c.3773-131T>A XP_011520763.1:n.3773-131T>A
XM_017023172.1:c.4141T>A XP_016878661.1:p.Phe1381Ile
XM_017023173.1:c.3929-131T>A XP_016878662.1:n.3929-131T>A
NM_001134407.3:c.3985T>A MANE Select NP_001127879.1:p.Phe1329Ile
NM_000833.5:c.3985T>A NP_000824.1:p.Phe1329Ile