Canonical Allele Identifier: CA361904474
Community Standard Title: NM_000827.4(GRIA1):c.269A>C (p.Glu90Ala)
Gene: GRIA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.153646976A>C , CM000667.2:g.153646976A>C GRCh38
NC_000005.9:g.153026536A>C , CM000667.1:g.153026536A>C GRCh37
NC_000005.8:g.153006729A>C NCBI36
NG_047078.1:g.162281A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000827.4:c.269A>C MANE Select NP_000818.2:p.Glu90Ala
ENST00000285900.10:c.269A>C MANE Select ENSP00000285900.4:p.Glu90Ala
NM_000827.3:c.269A>C NP_000818.2:p.Glu90Ala
NM_001114183.1:c.269A>C NP_001107655.1:p.Glu90Ala
NM_001114183.2:c.269A>C NP_001107655.1:p.Glu90Ala
NM_001258019.1:c.221-3354A>C NP_001244948.1:n.221-3354A>C
NM_001258019.2:c.221-3354A>C NP_001244948.1:n.221-3354A>C
NM_001258020.1:c.-17A>C NP_001244949.1:n.-17A>C
NM_001258020.2:c.-17A>C NP_001244949.1:n.-17A>C
NM_001258021.1:c.299A>C NP_001244950.1:p.Glu100Ala
NM_001258021.2:c.299A>C NP_001244950.1:p.Glu100Ala
NM_001258022.1:c.299A>C NP_001244951.1:p.Glu100Ala
NM_001258022.2:c.299A>C NP_001244951.1:p.Glu100Ala
NM_001258023.1:c.62A>C NP_001244952.1:p.Glu21Ala
NM_001364165.1:c.269A>C NP_001351094.1:p.Glu90Ala
NM_001364165.2:c.269A>C NP_001351094.1:p.Glu90Ala
NM_001364166.1:c.296A>C NP_001351095.1:p.Glu99Ala
NM_001364166.2:c.296A>C NP_001351095.1:p.Glu99Ala
NM_001364167.1:c.62A>C NP_001351096.1:p.Glu21Ala
NM_001364167.2:c.62A>C NP_001351096.1:p.Glu21Ala
NR_047578.1:n.496A>C
NR_047578.2:n.350A>C
NR_157093.1:n.488A>C
NR_157093.2:n.488A>C
ENST00000285900.9:c.269A>C ENSP00000285900.4:p.Glu90Ala
ENST00000340592.10:c.269A>C ENSP00000339343.5:p.Glu90Ala
ENST00000340592.9:c.269A>C ENSP00000339343.5:p.Glu90Ala
ENST00000448073.8:c.299A>C ENSP00000415569.2:p.Glu100Ala
ENST00000481559.6:n.410A>C
ENST00000518142.5:c.221-3354A>C ENSP00000427920.1:n.221-3354A>C
ENST00000518783.1:c.299A>C ENSP00000428994.1:p.Glu100Ala
ENST00000518862.5:n.217A>C
ENST00000520353.6:c.62A>C ENSP00000516539.1:p.Glu21Ala
ENST00000520966.1:n.137A>C
ENST00000521843.6:c.62A>C ENSP00000427864.2:p.Glu21Ala
ENST00000706733.1:c.269A>C ENSP00000516520.1:p.Glu90Ala
ENST00000706734.1:c.296A>C ENSP00000516521.1:p.Glu99Ala
ENST00000706767.1:c.131A>C ENSP00000516540.1:p.Glu44Ala
XM_011537635.1:c.209A>C XP_011535937.1:p.Glu70Ala
XM_017009392.1:c.299A>C XP_016864881.1:p.Glu100Ala
XR_427776.2:n.539A>C