Canonical Allele Identifier: CA406065360

Gene: GRIK5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42056808G>A , CM000681.2:g.42056808G>A	GRCh38
NC_000019.9:g.42560960G>A , CM000681.1:g.42560960G>A	GRCh37
NC_000019.8:g.47252800G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002088.5:c.757C>T MANE Select	NP_002079.3:p.His253Tyr
ENST00000593562.6:c.757C>T MANE Select	ENSP00000470251.1:p.His253Tyr
NM_001301030.1:c.757C>T	NP_001287959.1:p.His253Tyr
NM_001301030.2:c.757C>T	NP_001287959.1:p.His253Tyr
NM_002088.4:c.757C>T	NP_002079.3:p.His253Tyr
ENST00000262895.7:c.757C>T	ENSP00000262895.2:p.His253Tyr
ENST00000301218.8:c.757C>T	ENSP00000301218.3:p.His253Tyr
ENST00000593562.5:c.757C>T	ENSP00000470251.1:p.His253Tyr
ENST00000594528.1:c.*649C>T	ENSP00000469135.1:n.*649C>T
XM_005258821.2:c.757C>T	XP_005258878.1:p.His253Tyr
XM_005258821.3:c.757C>T	XP_005258878.1:p.His253Tyr
XM_011526862.1:c.757C>T	XP_011525164.1:p.His253Tyr
XM_011526862.2:c.757C>T	XP_011525164.1:p.His253Tyr
XM_011526863.1:c.757C>T	XP_011525165.1:p.His253Tyr
XM_011526863.2:c.757C>T	XP_011525165.1:p.His253Tyr
XM_011526864.1:c.757C>T	XP_011525166.1:p.His253Tyr
XM_011526865.1:c.757C>T	XP_011525167.1:p.His253Tyr
XM_011526866.1:c.553C>T	XP_011525168.1:p.His185Tyr
XM_011526867.1:c.553C>T	XP_011525169.1:p.His185Tyr
XM_011526868.1:c.514C>T	XP_011525170.1:p.His172Tyr
XM_011526869.1:c.757C>T	XP_011525171.1:p.His253Tyr
XM_011526869.2:c.757C>T	XP_011525171.1:p.His253Tyr
XM_011526870.1:c.757C>T	XP_011525172.1:p.His253Tyr
XM_011526870.2:c.757C>T	XP_011525172.1:p.His253Tyr
XM_011526871.1:c.757C>T	XP_011525173.1:p.His253Tyr
XM_011526871.2:c.757C>T	XP_011525173.1:p.His253Tyr
XM_017026713.1:c.553C>T	XP_016882202.1:p.His185Tyr
XR_935810.1:n.1701C>T
XR_935810.2:n.1705C>T