Linked Data
dbSNP Id:
rs1203477070
gnomAD v2:
16-88923248-A-C
gnomAD v3:
16-88856840-A-C
gnomAD v4:
16-88856840-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88856840A>C , CM000678.2:g.88856840A>C | GRCh38 |
| NC_000016.9:g.88923248A>C , CM000678.1:g.88923248A>C | GRCh37 |
| NC_000016.8:g.87450749A>C | NCBI36 |
| NG_008667.1:g.5127T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.38T>G (GALNS) MANE Select | ENSP00000268695.5:p.Leu13Arg | |
| ENST00000268695.9:c.38T>G (GALNS) | ENSP00000268695.5:p.Leu13Arg | |
| ENST00000564365.5:c.-398+594A>C (TRAPPC2L) | ENSP00000455447.1:n.-398+594A>C | |
| ENST00000565364.1:n.3T>G (GALNS) | ||
| ENST00000568311.1:c.38T>G (GALNS) | ENSP00000455006.1:p.Leu13Arg | |
| ENST00000569433.1:c.38T>G (GALNS) | ENSP00000456884.1:p.Leu13Arg | |
| NM_000512.4:c.38T>G (GALNS) | NP_000503.1:p.Leu13Arg | |
| XM_005256301.2:c.38T>G (GALNS) | XP_005256358.1:p.Leu13Arg | |
| XM_005256302.1:c.-115T>G (GALNS) | XP_005256359.1:n.-115T>G | |
| XM_011522982.1:c.-115T>G (GALNS) | XP_011521284.1:n.-115T>G | |
| XM_011522984.1:c.-115T>G (GALNS) | XP_011521286.1:n.-115T>G | |
| NM_001323543.1:c.-394T>G (GALNS) | NP_001310472.1:n.-394T>G | |
| NM_001323544.1:c.-115T>G (GALNS) | NP_001310473.1:n.-115T>G | |
| NR_134671.1:n.27+594A>C (TRAPPC2L) | ||
| XM_005256301.3:c.38T>G (GALNS) | XP_005256358.1:p.Leu13Arg | |
| XM_011522982.2:c.-115T>G (GALNS) | XP_011521284.1:n.-115T>G | |
| XM_017023113.1:c.-394T>G (GALNS) | XP_016878602.1:n.-394T>G | |
| NM_000512.5:c.38T>G (GALNS) MANE Select | NP_000503.1:p.Leu13Arg | |
| NM_001323543.2:c.-394T>G (GALNS) | NP_001310472.1:n.-394T>G | |
| NM_001323544.2:c.-115T>G (GALNS) | NP_001310473.1:n.-115T>G | |
| NR_134671.2:n.27+594A>C (TRAPPC2L) |