ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
creatine transporter deficiency
Revel Score:
ENST00000253122 (MANE Select)
0.961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688833G>A , CM000685.2:g.153688833G>A | GRCh38 |
| NC_000023.10:g.152954288G>A , CM000685.1:g.152954288G>A | GRCh37 |
| NC_000023.9:g.152607482G>A | NCBI36 |
| NG_012016.1:g.5537G>A | |
| NG_012016.2:g.5537G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.259G>A (SLC6A8) MANE Select | ENSP00000253122.5:p.Gly87Arg | |
| ENST00000253122.9:c.259G>A (SLC6A8) | ENSP00000253122.5:p.Gly87Arg | |
| ENST00000458354.5:c.-21C>T (PNCK) | ENSP00000401542.1:n.-21C>T | |
| ENST00000476466.1:n.111G>A (SLC6A8) | ||
| ENST00000480693.1:n.46C>T (PNCK) | ||
| NM_001142805.1:c.259G>A (SLC6A8) | NP_001136277.1:p.Gly87Arg | |
| NM_005629.3:c.259G>A (SLC6A8) | NP_005620.1:p.Gly87Arg | |
| NM_005629.4:c.259G>A (SLC6A8) MANE Select | NP_005620.1:p.Gly87Arg | |
| NM_001142805.2:c.259G>A (SLC6A8) | NP_001136277.1:p.Gly87Arg |