Canonical Allele Identifier: CA394706418

Gene: GRIN2A

Linked Data

• dbSNP Id: rs1164376588
• gnomAD v2: 16-9857415-A-T
• gnomAD v3: 16-9763558-A-T
• gnomAD v4: 16-9763558-A-T
• MyVariant Identifiers: chr16:g.9857415A>T (hg19) ; chr16:g.9763558A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763558A>T , CM000678.2:g.9763558A>T	GRCh38
NC_000016.9:g.9857415A>T , CM000678.1:g.9857415A>T	GRCh37
NC_000016.8:g.9764916A>T	NCBI36
NG_011812.1:g.424197T>A
NG_011812.2:g.424197T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3986T>A MANE Select	ENSP00000332549.3:p.Phe1329Tyr
ENST00000535259.6:c.3302-130T>A	ENSP00000441572.3:n.3302-130T>A
ENST00000636273.2:n.3366-130T>A
ENST00000674742.1:c.3515T>A	ENSP00000502200.1:p.Phe1172Tyr
ENST00000675398.1:c.*1356T>A	ENSP00000502752.1:n.*1356T>A
ENST00000330684.3:c.3986T>A	ENSP00000332549.3:p.Phe1329Tyr
ENST00000396573.6:c.3986T>A	ENSP00000379818.2:p.Phe1329Tyr
ENST00000396575.6:c.3575T>A	ENSP00000379820.3:p.Phe1192Tyr
ENST00000461292.3:n.3412-130T>A
ENST00000535259.5:c.3362-130T>A	ENSP00000441572.2:n.3362-130T>A
ENST00000562109.5:c.3773-130T>A	ENSP00000454998.1:n.3773-130T>A
NM_000833.4:c.3986T>A	NP_000824.1:p.Phe1329Tyr
NM_001134407.2:c.3986T>A	NP_001127879.1:p.Phe1329Tyr
NM_001134408.2:c.3773-130T>A	NP_001127880.1:n.3773-130T>A
XM_011522456.1:c.3827T>A	XP_011520758.1:p.Phe1276Tyr
XM_011522457.1:c.3728T>A	XP_011520759.1:p.Phe1243Tyr
XM_011522458.1:c.3515T>A	XP_011520760.1:p.Phe1172Tyr
XM_011522459.1:c.3515T>A	XP_011520761.1:p.Phe1172Tyr
XM_011522460.1:c.3515T>A	XP_011520762.1:p.Phe1172Tyr
XM_011522461.1:c.3773-130T>A	XP_011520763.1:n.3773-130T>A
XM_011522458.3:c.3515T>A	XP_011520760.1:p.Phe1172Tyr
XM_011522461.3:c.3773-130T>A	XP_011520763.1:n.3773-130T>A
XM_017023172.1:c.4142T>A	XP_016878661.1:p.Phe1381Tyr
XM_017023173.1:c.3929-130T>A	XP_016878662.1:n.3929-130T>A
NM_001134407.3:c.3986T>A MANE Select	NP_001127879.1:p.Phe1329Tyr
NM_000833.5:c.3986T>A	NP_000824.1:p.Phe1329Tyr