Canonical Allele Identifier: CA493552981

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 725642
• ClinVar RCV Id: RCV000899734
• dbSNP Id: rs1596587565
• gnomAD v4: 16-10180388-G-T
• MyVariant Identifiers: chr16:g.10274245G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180388G>T , CM000678.2:g.10180388G>T	GRCh38
NC_000016.9:g.10274245G>T , CM000678.1:g.10274245G>T	GRCh37
NC_000016.8:g.10181746G>T	NCBI36
NG_011812.1:g.7367C>A
NG_011812.2:g.7367C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.24C>A MANE Select	ENSP00000332549.3:p.Thr8=
ENST00000636406.1:c.24C>A	ENSP00000490676.1:p.Thr8=
ENST00000637188.1:c.24C>A	ENSP00000489946.1:p.Thr8=
ENST00000675189.1:n.508C>A
ENST00000675398.1:c.24C>A	ENSP00000502752.1:p.Thr8=
ENST00000676032.1:n.457C>A
ENST00000330684.3:c.24C>A	ENSP00000332549.3:p.Thr8=
ENST00000396573.6:c.24C>A	ENSP00000379818.2:p.Thr8=
ENST00000562109.5:c.24C>A	ENSP00000454998.1:p.Thr8=
ENST00000566665.1:n.425C>A
NM_000833.4:c.24C>A	NP_000824.1:p.Thr8=
NM_001134407.2:c.24C>A	NP_001127879.1:p.Thr8=
NM_001134408.2:c.24C>A	NP_001127880.1:p.Thr8=
XM_011522461.1:c.24C>A	XP_011520763.1:p.Thr8=
XM_011522461.3:c.24C>A	XP_011520763.1:p.Thr8=
XM_017023172.1:c.180C>A	XP_016878661.1:p.Thr60=
XM_017023173.1:c.180C>A	XP_016878662.1:p.Thr60=
NM_001134407.3:c.24C>A MANE Select	NP_001127879.1:p.Thr8=
NM_000833.5:c.24C>A	NP_000824.1:p.Thr8=