Canonical Allele Identifier: CA9468699
Community Standard Title: NM_002088.5(GRIK5):c.432C>T (p.Asp144=)
Gene: GRIK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42062564G>A , CM000681.2:g.42062564G>A GRCh38
NC_000019.9:g.42566716G>A , CM000681.1:g.42566716G>A GRCh37
NC_000019.8:g.47258556G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002088.5:c.432C>T MANE Select NP_002079.3:p.Asp144=
ENST00000593562.6:c.432C>T MANE Select ENSP00000470251.1:p.Asp144=
NM_001301030.1:c.432C>T NP_001287959.1:p.Asp144=
NM_001301030.2:c.432C>T NP_001287959.1:p.Asp144=
NM_002088.4:c.432C>T NP_002079.3:p.Asp144=
ENST00000262895.7:c.432C>T ENSP00000262895.2:p.Asp144=
ENST00000301218.8:c.432C>T ENSP00000301218.3:p.Asp144=
ENST00000593562.5:c.432C>T ENSP00000470251.1:p.Asp144=
ENST00000594528.1:c.*324C>T ENSP00000469135.1:n.*324C>T
XM_005258821.2:c.432C>T XP_005258878.1:p.Asp144=
XM_005258821.3:c.432C>T XP_005258878.1:p.Asp144=
XM_011526862.1:c.432C>T XP_011525164.1:p.Asp144=
XM_011526862.2:c.432C>T XP_011525164.1:p.Asp144=
XM_011526863.1:c.432C>T XP_011525165.1:p.Asp144=
XM_011526863.2:c.432C>T XP_011525165.1:p.Asp144=
XM_011526864.1:c.432C>T XP_011525166.1:p.Asp144=
XM_011526865.1:c.432C>T XP_011525167.1:p.Asp144=
XM_011526866.1:c.228C>T XP_011525168.1:p.Asp76=
XM_011526867.1:c.228C>T XP_011525169.1:p.Asp76=
XM_011526868.1:c.189C>T XP_011525170.1:p.Asp63=
XM_011526869.1:c.432C>T XP_011525171.1:p.Asp144=
XM_011526869.2:c.432C>T XP_011525171.1:p.Asp144=
XM_011526870.1:c.432C>T XP_011525172.1:p.Asp144=
XM_011526870.2:c.432C>T XP_011525172.1:p.Asp144=
XM_011526871.1:c.432C>T XP_011525173.1:p.Asp144=
XM_011526871.2:c.432C>T XP_011525173.1:p.Asp144=
XM_017026713.1:c.228C>T XP_016882202.1:p.Asp76=
XR_935810.1:n.1376C>T
XR_935810.2:n.1380C>T