Linked Data
ClinVar Variation Id:
434946
dbSNP Id:
rs1473465948
gnomAD v2:
X-69673622-C-T
gnomAD v3:
X-70453772-C-T
gnomAD v4:
X-70453772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70453772C>T , CM000685.2:g.70453772C>T | GRCh38 |
| NC_000023.10:g.69673622C>T , CM000685.1:g.69673622C>T | GRCh37 |
| NC_000023.9:g.69590347C>T | NCBI36 |
| NG_015849.1:g.13918C>T | |
| NG_015849.2:g.13918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374355.8:c.270C>T (DLG3) | ENSP00000363475.3:p.Arg90= | |
| ENST00000374360.8:c.1281C>T (DLG3) MANE Select | ENSP00000363480.3:p.Arg427= | |
| ENST00000194900.8:c.1335C>T (DLG3) | ENSP00000194900.4:p.Arg445= | |
| ENST00000374355.7:c.270C>T (DLG3) | ENSP00000363475.3:p.Arg90= | |
| ENST00000374360.7:c.1281C>T (DLG3) | ENSP00000363480.3:p.Arg427= | |
| ENST00000463252.5:n.1680C>T (DLG3) | ||
| NM_020730.2:c.270C>T (DLG3) | NP_065781.1:p.Arg90= | |
| NM_021120.3:c.1281C>T (DLG3) | NP_066943.2:p.Arg427= | |
| NR_046586.1:n.84-466G>A (DLG3-AS1) | ||
| NR_109801.1:n.51-466G>A (DLG3-AS1) | ||
| XM_005262248.2:c.-169C>T (DLG3) | XP_005262305.1:n.-169C>T | |
| XM_006724625.2:c.1281C>T (DLG3) | XP_006724688.1:p.Arg427= | |
| XM_006724626.2:c.1281C>T (DLG3) | XP_006724689.1:p.Arg427= | |
| XM_011530883.1:c.1281C>T (DLG3) | XP_011529185.1:p.Arg427= | |
| XM_005262248.4:c.-169C>T (DLG3) | XP_005262305.1:n.-169C>T | |
| XM_017029322.2:c.270C>T (DLG3) | XP_016884811.1:p.Arg90= | |
| XM_017029323.2:c.270C>T (DLG3) | XP_016884812.1:p.Arg90= | |
| XM_017029324.2:c.270C>T (DLG3) | XP_016884813.1:p.Arg90= | |
| NM_021120.4:c.1281C>T (DLG3) MANE Select | NP_066943.2:p.Arg427= | |
| NM_020730.3:c.270C>T (DLG3) | NP_065781.1:p.Arg90= |