Canonical Allele Identifier: CA277536138

Gene: GRIN2A

Linked Data

• dbSNP Id: rs544975518
• gnomAD v4: 16-9763417-C-T
• MyVariant Identifiers: chr16:g.9857274C>T (hg19) ; chr16:g.9763417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763417C>T , CM000678.2:g.9763417C>T	GRCh38
NC_000016.9:g.9857274C>T , CM000678.1:g.9857274C>T	GRCh37
NC_000016.8:g.9764775C>T	NCBI36
NG_011812.1:g.424338G>A
NG_011812.2:g.424338G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4127G>A MANE Select	ENSP00000332549.3:p.Arg1376His
ENST00000535259.6:c.3313G>A	ENSP00000441572.3:p.Ala1105Thr
ENST00000636273.2:n.3377G>A
ENST00000674742.1:c.3656G>A	ENSP00000502200.1:p.Arg1219His
ENST00000675398.1:c.*1497G>A	ENSP00000502752.1:n.*1497G>A
ENST00000330684.3:c.4127G>A	ENSP00000332549.3:p.Arg1376His
ENST00000396573.6:c.4127G>A	ENSP00000379818.2:p.Arg1376His
ENST00000396575.6:c.3716G>A	ENSP00000379820.3:p.Arg1239His
ENST00000461292.3:n.3423G>A
ENST00000535259.5:c.3373G>A	ENSP00000441572.2:p.Ala1125Thr
ENST00000562109.5:c.3784G>A	ENSP00000454998.1:p.Ala1262Thr
NM_000833.4:c.4127G>A	NP_000824.1:p.Arg1376His
NM_001134407.2:c.4127G>A	NP_001127879.1:p.Arg1376His
NM_001134408.2:c.3784G>A	NP_001127880.1:p.Ala1262Thr
XM_011522456.1:c.3968G>A	XP_011520758.1:p.Arg1323His
XM_011522457.1:c.3869G>A	XP_011520759.1:p.Arg1290His
XM_011522458.1:c.3656G>A	XP_011520760.1:p.Arg1219His
XM_011522459.1:c.3656G>A	XP_011520761.1:p.Arg1219His
XM_011522460.1:c.3656G>A	XP_011520762.1:p.Arg1219His
XM_011522461.1:c.3784G>A	XP_011520763.1:p.Ala1262Thr
XM_011522458.3:c.3656G>A	XP_011520760.1:p.Arg1219His
XM_011522461.3:c.3784G>A	XP_011520763.1:p.Ala1262Thr
XM_017023172.1:c.4283G>A	XP_016878661.1:p.Arg1428His
XM_017023173.1:c.3940G>A	XP_016878662.1:p.Ala1314Thr
NM_001134407.3:c.4127G>A MANE Select	NP_001127879.1:p.Arg1376His
NM_000833.5:c.4127G>A	NP_000824.1:p.Arg1376His