Linked Data
ClinVar Variation Id:
2479386
ClinVar RCV Id:
RCV004267642
dbSNP Id:
rs1162720679
gnomAD v2:
5-153796389-C-T
gnomAD v3:
5-154416829-C-T
gnomAD v4:
5-154416829-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154416829C>T , CM000667.2:g.154416829C>T | GRCh38 |
| NC_000005.9:g.153796389C>T , CM000667.1:g.153796389C>T | GRCh37 |
| NC_000005.8:g.153776582C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297107.11:c.1669C>T (GALNT10) MANE Select | ENSP00000297107.6:p.His557Tyr | |
| ENST00000297107.10:c.1669C>T (GALNT10) | ENSP00000297107.6:p.His557Tyr | |
| ENST00000377661.2:c.1483C>T (GALNT10) | ENSP00000366889.2:p.His495Tyr | |
| ENST00000517958.1:n.945C>T (GALNT10) | ||
| ENST00000520647.5:c.*1435C>T (GALNT10) | ENSP00000428573.1:n.*1435C>T | |
| NM_198321.3:c.1669C>T (GALNT10) | NP_938080.1:p.His557Tyr | |
| NR_037897.1:n.205-23815G>A (SAP30L-AS1) | ||
| NM_198321.4:c.1669C>T (GALNT10) MANE Select | NP_938080.1:p.His557Tyr |