Canonical Allele Identifier: CA2206732645
Community Standard Title: NM_001134407.3(GRIN2A):c.1592C= (p.Thr531=)
Gene: GRIN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9840706G= , CM000678.2:g.9840706G= GRCh38
NC_000016.9:g.9934563G= , CM000678.1:g.9934563G= GRCh37
NC_000016.8:g.9842064G= NCBI36
NG_011812.1:g.347049C=
NG_011812.2:g.347049C=

Transcript Alleles

HGVS Amino-acid Change
NM_001134407.3:c.1592C= MANE Select NP_001127879.1:p.Thr531=
ENST00000330684.4:c.1592C= MANE Select ENSP00000332549.3:p.Thr531=
NM_000833.4:c.1592C= NP_000824.1:p.Thr531=
NM_000833.5:c.1592C= NP_000824.1:p.Thr531=
NM_001134407.2:c.1592C= NP_001127879.1:p.Thr531=
NM_001134408.2:c.1592C= NP_001127880.1:p.Thr531=
ENST00000330684.3:c.1592C= ENSP00000332549.3:p.Thr531=
ENST00000396573.6:c.1592C= ENSP00000379818.2:p.Thr531=
ENST00000396575.6:c.1181C= ENSP00000379820.3:p.Thr394=
ENST00000461292.3:n.1231C=
ENST00000535259.5:c.1181C= ENSP00000441572.2:p.Thr394=
ENST00000535259.6:c.1121C= ENSP00000441572.3:p.Thr374=
ENST00000562109.5:c.1592C= ENSP00000454998.1:p.Thr531=
ENST00000636273.2:n.1185C=
ENST00000674742.1:c.1121C= ENSP00000502200.1:p.Thr374=
ENST00000675189.1:n.2076C=
ENST00000675398.1:c.1592C= ENSP00000502752.1:p.Thr531=
XM_011522456.1:c.1433C= XP_011520758.1:p.Thr478=
XM_011522457.1:c.1334C= XP_011520759.1:p.Thr445=
XM_011522458.1:c.1121C= XP_011520760.1:p.Thr374=
XM_011522458.3:c.1121C= XP_011520760.1:p.Thr374=
XM_011522459.1:c.1121C= XP_011520761.1:p.Thr374=
XM_011522460.1:c.1121C= XP_011520762.1:p.Thr374=
XM_011522461.1:c.1592C= XP_011520763.1:p.Thr531=
XM_011522461.3:c.1592C= XP_011520763.1:p.Thr531=
XM_017023172.1:c.1748C= XP_016878661.1:p.Thr583=
XM_017023173.1:c.1748C= XP_016878662.1:p.Thr583=