Linked Data
MyVariant Identifiers:
chrX:g.77373599G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118102G>A , CM000685.2:g.78118102G>A | GRCh38 |
| NC_000023.10:g.77373599G>A , CM000685.1:g.77373599G>A | GRCh37 |
| NC_000023.9:g.77260255G>A | NCBI36 |
| NG_008862.1:g.18934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.573G>A MANE Select | ENSP00000362413.4:p.Lys191= | |
| ENST00000644362.1:c.489G>A | ENSP00000496140.1:p.Lys163= | |
| ENST00000373316.4:c.573G>A | ENSP00000362413.4:p.Lys191= | |
| ENST00000491291.1:n.565G>A | ||
| NM_000291.3:c.573G>A | NP_000282.1:p.Lys191= | |
| NM_000291.4:c.573G>A MANE Select | NP_000282.1:p.Lys191= |