Canonical Allele Identifier: CA2206693202
Community Standard Title: NM_001134407.3(GRIN2A):c.3174C= (p.His1058=)
Gene: GRIN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9764370G= , CM000678.2:g.9764370G= GRCh38
NC_000016.9:g.9858227G= , CM000678.1:g.9858227G= GRCh37
NC_000016.8:g.9765728G= NCBI36
NG_011812.1:g.423385C=
NG_011812.2:g.423385C=

Transcript Alleles

HGVS Amino-acid Change
NM_001134407.3:c.3174C= MANE Select NP_001127879.1:p.His1058=
ENST00000330684.4:c.3174C= MANE Select ENSP00000332549.3:p.His1058=
NM_000833.4:c.3174C= NP_000824.1:p.His1058=
NM_000833.5:c.3174C= NP_000824.1:p.His1058=
NM_001134407.2:c.3174C= NP_001127879.1:p.His1058=
NM_001134408.2:c.3174C= NP_001127880.1:p.His1058=
ENST00000330684.3:c.3174C= ENSP00000332549.3:p.His1058=
ENST00000396573.6:c.3174C= ENSP00000379818.2:p.His1058=
ENST00000396575.6:c.2763C= ENSP00000379820.3:p.His921=
ENST00000461292.3:n.2813C=
ENST00000535259.5:c.2763C= ENSP00000441572.2:p.His921=
ENST00000535259.6:c.2703C= ENSP00000441572.3:p.His901=
ENST00000562109.5:c.3174C= ENSP00000454998.1:p.His1058=
ENST00000636273.2:n.2767C=
ENST00000674742.1:c.2703C= ENSP00000502200.1:p.His901=
ENST00000675398.1:c.*544C= ENSP00000502752.1:n.*544C=
XM_011522456.1:c.3015C= XP_011520758.1:p.His1005=
XM_011522457.1:c.2916C= XP_011520759.1:p.His972=
XM_011522458.1:c.2703C= XP_011520760.1:p.His901=
XM_011522458.3:c.2703C= XP_011520760.1:p.His901=
XM_011522459.1:c.2703C= XP_011520761.1:p.His901=
XM_011522460.1:c.2703C= XP_011520762.1:p.His901=
XM_011522461.1:c.3174C= XP_011520763.1:p.His1058=
XM_011522461.3:c.3174C= XP_011520763.1:p.His1058=
XM_017023172.1:c.3330C= XP_016878661.1:p.His1110=
XM_017023173.1:c.3330C= XP_016878662.1:p.His1110=