Linked Data
ClinVar Variation Id:
321211
ClinVar RCV Id:
RCV000307369
dbSNP Id:
rs763093375
ExAC:
16:88923233 C / G
gnomAD v2:
16-88923233-C-G
gnomAD v3:
16-88856825-C-G
gnomAD v4:
16-88856825-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88856825C>G , CM000678.2:g.88856825C>G | GRCh38 |
| NC_000016.9:g.88923233C>G , CM000678.1:g.88923233C>G | GRCh37 |
| NC_000016.8:g.87450734C>G | NCBI36 |
| NG_008667.1:g.5142G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.53G>C (GALNS) MANE Select | ENSP00000268695.5:p.Ser18Thr | |
| ENST00000268695.9:c.53G>C (GALNS) | ENSP00000268695.5:p.Ser18Thr | |
| ENST00000564365.5:c.-398+579C>G (TRAPPC2L) | ENSP00000455447.1:n.-398+579C>G | |
| ENST00000565364.1:n.18G>C (GALNS) | ||
| ENST00000567525.5:c.2G>C (GALNS) | ENSP00000454484.1:p.Ser1Thr | |
| ENST00000568311.1:c.53G>C (GALNS) | ENSP00000455006.1:p.Ser18Thr | |
| ENST00000568613.5:c.2G>C (GALNS) | ENSP00000457921.1:p.Ser1Thr | |
| ENST00000569433.1:c.53G>C (GALNS) | ENSP00000456884.1:p.Ser18Thr | |
| NM_000512.4:c.53G>C (GALNS) | NP_000503.1:p.Ser18Thr | |
| XM_005256301.2:c.53G>C (GALNS) | XP_005256358.1:p.Ser18Thr | |
| XM_005256302.1:c.-100G>C (GALNS) | XP_005256359.1:n.-100G>C | |
| XM_011522982.1:c.-100G>C (GALNS) | XP_011521284.1:n.-100G>C | |
| XM_011522984.1:c.-100G>C (GALNS) | XP_011521286.1:n.-100G>C | |
| NM_001323543.1:c.-379G>C (GALNS) | NP_001310472.1:n.-379G>C | |
| NM_001323544.1:c.-100G>C (GALNS) | NP_001310473.1:n.-100G>C | |
| NR_134671.1:n.27+579C>G (TRAPPC2L) | ||
| XM_005256301.3:c.53G>C (GALNS) | XP_005256358.1:p.Ser18Thr | |
| XM_011522982.2:c.-100G>C (GALNS) | XP_011521284.1:n.-100G>C | |
| XM_017023113.1:c.-379G>C (GALNS) | XP_016878602.1:n.-379G>C | |
| NM_000512.5:c.53G>C (GALNS) MANE Select | NP_000503.1:p.Ser18Thr | |
| NM_001323543.2:c.-379G>C (GALNS) | NP_001310472.1:n.-379G>C | |
| NM_001323544.2:c.-100G>C (GALNS) | NP_001310473.1:n.-100G>C | |
| NR_134671.2:n.27+579C>G (TRAPPC2L) |