Canonical Allele Identifier: CA9468714

Gene: GRIK5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42062620G>T , CM000681.2:g.42062620G>T	GRCh38
NC_000019.9:g.42566772G>T , CM000681.1:g.42566772G>T	GRCh37
NC_000019.8:g.47258612G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002088.5:c.376C>A MANE Select	NP_002079.3:p.Pro126Thr
ENST00000593562.6:c.376C>A MANE Select	ENSP00000470251.1:p.Pro126Thr
NM_001301030.1:c.376C>A	NP_001287959.1:p.Pro126Thr
NM_001301030.2:c.376C>A	NP_001287959.1:p.Pro126Thr
NM_002088.4:c.376C>A	NP_002079.3:p.Pro126Thr
ENST00000262895.7:c.376C>A	ENSP00000262895.2:p.Pro126Thr
ENST00000301218.8:c.376C>A	ENSP00000301218.3:p.Pro126Thr
ENST00000593562.5:c.376C>A	ENSP00000470251.1:p.Pro126Thr
ENST00000594528.1:c.*268C>A	ENSP00000469135.1:n.*268C>A
XM_005258821.2:c.376C>A	XP_005258878.1:p.Pro126Thr
XM_005258821.3:c.376C>A	XP_005258878.1:p.Pro126Thr
XM_011526862.1:c.376C>A	XP_011525164.1:p.Pro126Thr
XM_011526862.2:c.376C>A	XP_011525164.1:p.Pro126Thr
XM_011526863.1:c.376C>A	XP_011525165.1:p.Pro126Thr
XM_011526863.2:c.376C>A	XP_011525165.1:p.Pro126Thr
XM_011526864.1:c.376C>A	XP_011525166.1:p.Pro126Thr
XM_011526865.1:c.376C>A	XP_011525167.1:p.Pro126Thr
XM_011526866.1:c.172C>A	XP_011525168.1:p.Pro58Thr
XM_011526867.1:c.172C>A	XP_011525169.1:p.Pro58Thr
XM_011526868.1:c.133C>A	XP_011525170.1:p.Pro45Thr
XM_011526869.1:c.376C>A	XP_011525171.1:p.Pro126Thr
XM_011526869.2:c.376C>A	XP_011525171.1:p.Pro126Thr
XM_011526870.1:c.376C>A	XP_011525172.1:p.Pro126Thr
XM_011526870.2:c.376C>A	XP_011525172.1:p.Pro126Thr
XM_011526871.1:c.376C>A	XP_011525173.1:p.Pro126Thr
XM_011526871.2:c.376C>A	XP_011525173.1:p.Pro126Thr
XM_017026713.1:c.172C>A	XP_016882202.1:p.Pro58Thr
XR_935810.1:n.1320C>A
XR_935810.2:n.1324C>A