Canonical Allele Identifier: CA394715254

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2142388268
• gnomAD v4: 16-10180084-C-G
• MyVariant Identifiers: chr16:g.10273941C>G (hg19) ; chr16:g.10180084C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180084C>G , CM000678.2:g.10180084C>G	GRCh38
NC_000016.9:g.10273941C>G , CM000678.1:g.10273941C>G	GRCh37
NC_000016.8:g.10181442C>G	NCBI36
NG_011812.1:g.7671G>C
NG_011812.2:g.7671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.328G>C MANE Select	ENSP00000332549.3:p.Ala110Pro
ENST00000637334.1:n.7G>C
ENST00000675189.1:n.812G>C
ENST00000675398.1:c.328G>C	ENSP00000502752.1:p.Ala110Pro
ENST00000676032.1:n.761G>C
ENST00000330684.3:c.328G>C	ENSP00000332549.3:p.Ala110Pro
ENST00000396573.6:c.328G>C	ENSP00000379818.2:p.Ala110Pro
ENST00000562109.5:c.328G>C	ENSP00000454998.1:p.Ala110Pro
ENST00000566665.1:n.729G>C
NM_000833.4:c.328G>C	NP_000824.1:p.Ala110Pro
NM_001134407.2:c.328G>C	NP_001127879.1:p.Ala110Pro
NM_001134408.2:c.328G>C	NP_001127880.1:p.Ala110Pro
XM_011522461.1:c.328G>C	XP_011520763.1:p.Ala110Pro
XM_011522461.3:c.328G>C	XP_011520763.1:p.Ala110Pro
XM_017023172.1:c.484G>C	XP_016878661.1:p.Ala162Pro
XM_017023173.1:c.484G>C	XP_016878662.1:p.Ala162Pro
NM_001134407.3:c.328G>C MANE Select	NP_001127879.1:p.Ala110Pro
NM_000833.5:c.328G>C	NP_000824.1:p.Ala110Pro