Linked Data
dbSNP Id:
rs1603365702
gnomAD v4:
X-154379766-G-A
MyVariant Identifiers:
chrX:g.153608126G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379766G>A , CM000685.2:g.154379766G>A | GRCh38 |
| NC_000023.10:g.153608126G>A , CM000685.1:g.153608126G>A | GRCh37 |
| NC_000023.9:g.153261320G>A | NCBI36 |
| NG_008677.1:g.10331G>A , LRG_745:g.10331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.159G>A | ENSP00000507245.1:p.Ser53= | |
| ENST00000682478.1:n.135G>A | ||
| ENST00000683576.1:n.135G>A | ||
| ENST00000683627.1:c.159G>A | ENSP00000507533.1:p.Ser53= | |
| ENST00000684082.1:c.159G>A | ENSP00000508266.1:p.Ser53= | |
| ENST00000684633.1:n.131G>A | ||
| ENST00000684678.1:c.155G>A | ENSP00000507059.1:p.Arg52His | |
| ENST00000369842.9:c.159G>A MANE Select | ENSP00000358857.4:p.Ser53= | |
| ENST00000369835.3:c.83-176G>A | ENSP00000358850.3:n.83-176G>A | |
| ENST00000369842.8:c.159G>A | ENSP00000358857.4:p.Ser53= | |
| ENST00000428228.5:c.*64G>A | ENSP00000401081.1:n.*64G>A | |
| ENST00000468294.5:n.119G>A | ||
| ENST00000485261.1:n.164-176G>A | ||
| ENST00000486738.5:n.303G>A | ||
| ENST00000492448.1:n.142G>A | ||
| ENST00000494443.5:n.216G>A | ||
| NM_000117.2:c.159G>A , LRG_745t1:c.159G>A | NP_000108.1:p.Ser53= | |
| XM_024452349.1:c.-50G>A | XP_024308117.1:n.-50G>A | |
| NM_000117.3:c.159G>A MANE Select | NP_000108.1:p.Ser53= |