Linked Data
ClinVar Variation Id:
2400194
ClinVar RCV Id:
RCV004233991
dbSNP Id:
rs765242816
ExAC:
5:153796494 A / G
gnomAD v2:
5-153796494-A-G
gnomAD v3:
5-154416934-A-G
gnomAD v4:
5-154416934-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154416934A>G , CM000667.2:g.154416934A>G | GRCh38 |
| NC_000005.9:g.153796494A>G , CM000667.1:g.153796494A>G | GRCh37 |
| NC_000005.8:g.153776687A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297107.11:c.1774A>G (GALNT10) MANE Select | ENSP00000297107.6:p.Thr592Ala | |
| ENST00000297107.10:c.1774A>G (GALNT10) | ENSP00000297107.6:p.Thr592Ala | |
| ENST00000377661.2:c.1588A>G (GALNT10) | ENSP00000366889.2:p.Thr530Ala | |
| ENST00000517958.1:n.1050A>G (GALNT10) | ||
| ENST00000520647.5:c.*1540A>G (GALNT10) | ENSP00000428573.1:n.*1540A>G | |
| NM_198321.3:c.1774A>G (GALNT10) | NP_938080.1:p.Thr592Ala | |
| NR_037897.1:n.205-23920T>C (SAP30L-AS1) | ||
| NM_198321.4:c.1774A>G (GALNT10) MANE Select | NP_938080.1:p.Thr592Ala |