Canonical Allele Identifier: CA394705928

Gene: GRIN2A

Linked Data

• gnomAD v4: 16-9763378-T-C
• MyVariant Identifiers: chr16:g.9857235T>C (hg19) ; chr16:g.9763378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763378T>C , CM000678.2:g.9763378T>C	GRCh38
NC_000016.9:g.9857235T>C , CM000678.1:g.9857235T>C	GRCh37
NC_000016.8:g.9764736T>C	NCBI36
NG_011812.1:g.424377A>G
NG_011812.2:g.424377A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4166A>G MANE Select	ENSP00000332549.3:p.His1389Arg
ENST00000535259.6:c.3352A>G	ENSP00000441572.3:p.Thr1118Ala
ENST00000636273.2:n.3416A>G
ENST00000674742.1:c.3695A>G	ENSP00000502200.1:p.His1232Arg
ENST00000675398.1:c.*1536A>G	ENSP00000502752.1:n.*1536A>G
ENST00000330684.3:c.4166A>G	ENSP00000332549.3:p.His1389Arg
ENST00000396573.6:c.4166A>G	ENSP00000379818.2:p.His1389Arg
ENST00000396575.6:c.3755A>G	ENSP00000379820.3:p.His1252Arg
ENST00000461292.3:n.3462A>G
ENST00000535259.5:c.3412A>G	ENSP00000441572.2:p.Thr1138Ala
ENST00000562109.5:c.3823A>G	ENSP00000454998.1:p.Thr1275Ala
NM_000833.4:c.4166A>G	NP_000824.1:p.His1389Arg
NM_001134407.2:c.4166A>G	NP_001127879.1:p.His1389Arg
NM_001134408.2:c.3823A>G	NP_001127880.1:p.Thr1275Ala
XM_011522456.1:c.4007A>G	XP_011520758.1:p.His1336Arg
XM_011522457.1:c.3908A>G	XP_011520759.1:p.His1303Arg
XM_011522458.1:c.3695A>G	XP_011520760.1:p.His1232Arg
XM_011522459.1:c.3695A>G	XP_011520761.1:p.His1232Arg
XM_011522460.1:c.3695A>G	XP_011520762.1:p.His1232Arg
XM_011522461.1:c.3823A>G	XP_011520763.1:p.Thr1275Ala
XM_011522458.3:c.3695A>G	XP_011520760.1:p.His1232Arg
XM_011522461.3:c.3823A>G	XP_011520763.1:p.Thr1275Ala
XM_017023172.1:c.4322A>G	XP_016878661.1:p.His1441Arg
XM_017023173.1:c.3979A>G	XP_016878662.1:p.Thr1327Ala
NM_001134407.3:c.4166A>G MANE Select	NP_001127879.1:p.His1389Arg
NM_000833.5:c.4166A>G	NP_000824.1:p.His1389Arg