Linked Data
dbSNP Id:
rs1249181911
gnomAD v3:
X-153720985-C-T
gnomAD v4:
X-153720985-C-T
MyVariant Identifiers:
chrX:g.153720985C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153720985C>T , CM000685.2:g.153720985C>T | GRCh38 |
| NC_000023.10:g.152986440C>T , CM000685.1:g.152986440C>T | GRCh37 |
| NC_000023.9:g.152639634C>T | NCBI36 |
| NG_009022.2:g.1118C>T | |
| NG_023231.1:g.8762G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345046.12:c.93-13G>A MANE Select | ENSP00000343458.6:n.93-13G>A | |
| ENST00000458587.8:c.294-13G>A | ENSP00000392330.2:n.294-13G>A | |
| ENST00000645377.1:c.93-13G>A | ENSP00000494936.1:n.93-13G>A | |
| ENST00000645802.1:n.200-13G>A | ||
| ENST00000647529.1:c.93-13G>A | ENSP00000494052.1:n.93-13G>A | |
| ENST00000672675.1:c.93-13G>A | ENSP00000499882.1:n.93-13G>A | |
| ENST00000345046.10:c.93-13G>A | ENSP00000343458.6:n.93-13G>A | |
| ENST00000416815.5:c.93-13G>A | ENSP00000394270.1:n.93-13G>A | |
| ENST00000423827.5:c.93-13G>A | ENSP00000389740.1:n.93-13G>A | |
| ENST00000429550.5:c.93-13G>A | ENSP00000409888.1:n.93-13G>A | |
| ENST00000430088.1:c.93-13G>A | ENSP00000402342.1:n.93-13G>A | |
| ENST00000442093.5:c.93-13G>A | ENSP00000400345.1:n.93-13G>A | |
| ENST00000458587.6:c.294-13G>A | ENSP00000392330.2:n.294-13G>A | |
| ENST00000468947.1:n.173G>A | ||
| NM_001139441.1:c.93-13G>A | NP_001132913.1:n.93-13G>A | |
| NM_001139457.2:c.294-13G>A | NP_001132929.1:n.294-13G>A | |
| NM_001256447.1:c.93-13G>A | NP_001243376.1:n.93-13G>A | |
| NM_005745.7:c.93-13G>A | NP_005736.3:n.93-13G>A | |
| XR_002958758.1:n.724-13G>A | ||
| XR_002958759.1:n.550-13G>A | ||
| XR_002958760.1:n.315-13G>A | ||
| XR_002958761.1:n.249-13G>A | ||
| NM_001256447.2:c.93-13G>A MANE Select | NP_001243376.1:n.93-13G>A | |
| NM_005745.8:c.93-13G>A | NP_005736.3:n.93-13G>A |