Canonical Allele Identifier: CA382302194
Gene: GRIA4 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105933765G>C , CM000673.2:g.105933765G>C GRCh38
NC_000011.9:g.105804491G>C , CM000673.1:g.105804491G>C GRCh37
NC_000011.8:g.105309701G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000525187.6:c.2090G>C ENSP00000432180.1:p.Arg697Pro
ENST00000703743.2:c.2090G>C ENSP00000515457.2:p.Arg697Pro
ENST00000706777.1:c.2090G>C ENSP00000516542.1:p.Arg697Pro
ENST00000282499.10:c.2090G>C MANE Select ENSP00000282499.5:p.Arg697Pro
ENST00000282499.9:c.2090G>C ENSP00000282499.5:p.Arg697Pro
ENST00000393127.6:c.2090G>C ENSP00000376835.2:p.Arg697Pro
ENST00000525187.5:c.2090G>C ENSP00000432180.1:p.Arg697Pro
ENST00000530497.1:c.2090G>C ENSP00000435775.1:p.Arg697Pro
NM_000829.3:c.2090G>C NP_000820.3:p.Arg697Pro
NM_001077243.2:c.2090G>C NP_001070711.2:p.Arg697Pro
NR_046356.1:n.2404G>C
XM_005271518.2:c.2090G>C XP_005271575.1:p.Arg697Pro
XM_006718823.1:c.2090G>C XP_006718886.1:p.Arg697Pro
XM_011542775.1:c.2090G>C XP_011541077.1:p.Arg697Pro
XM_011542776.1:c.1580G>C XP_011541078.1:p.Arg527Pro
XM_011542777.1:c.1580G>C XP_011541079.1:p.Arg527Pro
XR_947825.1:n.2580G>C
XR_947979.1:n.1970-6892C>G
XR_947981.1:n.280-6892C>G
XM_005271518.3:c.2090G>C XP_005271575.1:p.Arg697Pro
XM_006718823.2:c.2090G>C XP_006718886.1:p.Arg697Pro
XM_011542775.2:c.2090G>C XP_011541077.1:p.Arg697Pro
XM_011542776.3:c.1580G>C XP_011541078.1:p.Arg527Pro
XM_011542777.3:c.1580G>C XP_011541079.1:p.Arg527Pro
XM_017017609.1:c.2090G>C XP_016873098.1:p.Arg697Pro
XM_017017610.2:c.2090G>C XP_016873099.1:p.Arg697Pro
XM_017017611.2:c.1580G>C XP_016873100.1:p.Arg527Pro
XR_001747841.1:n.2580G>C
NM_000829.4:c.2090G>C MANE Select NP_000820.4:p.Arg697Pro
NR_046356.2:n.2382G>C
NM_001077243.3:c.2090G>C NP_001070711.3:p.Arg697Pro