ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
creatine transporter deficiency
Revel Score:
ENST00000253122 (MANE Select)
0.585
ENST00000430077
0.585
ENST00000328897
0.585
ENST00000457723
0.585
ENST00000442457
0.512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694137G>A , CM000685.2:g.153694137G>A | GRCh38 |
| NC_000023.10:g.152959592G>A , CM000685.1:g.152959592G>A | GRCh37 |
| NC_000023.9:g.152612786G>A | NCBI36 |
| NG_012016.1:g.10841G>A | |
| NG_012016.2:g.10841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1262G>A MANE Select | ENSP00000253122.5:p.Gly421Asp | |
| ENST00000253122.9:c.1262G>A | ENSP00000253122.5:p.Gly421Asp | |
| ENST00000413787.1:c.258-67G>A | ENSP00000400463.1:n.258-67G>A | |
| ENST00000430077.6:c.917G>A | ENSP00000403041.2:p.Gly306Asp | |
| ENST00000442457.1:c.316G>A | ||
| ENST00000457723.1:c.239G>A | ENSP00000394742.1:p.Gly80Asp | |
| ENST00000485324.1:n.1407G>A | ||
| NM_001142805.1:c.1232G>A | NP_001136277.1:p.Gly411Asp | |
| NM_001142806.1:c.917G>A | NP_001136278.1:p.Gly306Asp | |
| NM_005629.3:c.1262G>A | NP_005620.1:p.Gly421Asp | |
| NM_005629.4:c.1262G>A MANE Select | NP_005620.1:p.Gly421Asp | |
| NM_001142805.2:c.1232G>A | NP_001136277.1:p.Gly411Asp |