Linked Data
MyVariant Identifiers:
chrX:g.77378838C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123341C>A , CM000685.2:g.78123341C>A | GRCh38 |
| NC_000023.10:g.77378838C>A , CM000685.1:g.77378838C>A | GRCh37 |
| NC_000023.9:g.77265494C>A | NCBI36 |
| NG_008862.1:g.24173C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.903C>A MANE Select | ENSP00000362413.4:p.Ala301= | |
| ENST00000644362.1:c.819C>A | ENSP00000496140.1:p.Ala273= | |
| ENST00000373316.4:c.903C>A | ENSP00000362413.4:p.Ala301= | |
| NM_000291.3:c.903C>A | NP_000282.1:p.Ala301= | |
| NM_000291.4:c.903C>A MANE Select | NP_000282.1:p.Ala301= |