Linked Data
ClinVar Variation Id:
2890998
ClinVar RCV Id:
RCV003597932
dbSNP Id:
rs1443269782
gnomAD v2:
16-88923175-G-A
gnomAD v4:
16-88856767-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88856767G>A , CM000678.2:g.88856767G>A | GRCh38 |
| NC_000016.9:g.88923175G>A , CM000678.1:g.88923175G>A | GRCh37 |
| NC_000016.8:g.87450676G>A | NCBI36 |
| NG_008667.1:g.5200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.111C>T (GALNS) MANE Select | ENSP00000268695.5:p.Leu37= | |
| ENST00000268695.9:c.111C>T (GALNS) | ENSP00000268695.5:p.Leu37= | |
| ENST00000564365.5:c.-398+521G>A (TRAPPC2L) | ENSP00000455447.1:n.-398+521G>A | |
| ENST00000565364.1:n.76C>T (GALNS) | ||
| ENST00000567525.5:c.60C>T (GALNS) | ENSP00000454484.1:p.Leu20= | |
| ENST00000568311.1:c.111C>T (GALNS) | ENSP00000455006.1:p.Leu37= | |
| ENST00000568613.5:c.60C>T (GALNS) | ENSP00000457921.1:p.Leu20= | |
| ENST00000569433.1:c.111C>T (GALNS) | ENSP00000456884.1:p.Leu37= | |
| NM_000512.4:c.111C>T (GALNS) | NP_000503.1:p.Leu37= | |
| XM_005256301.2:c.111C>T (GALNS) | XP_005256358.1:p.Leu37= | |
| XM_005256302.1:c.-42C>T (GALNS) | XP_005256359.1:n.-42C>T | |
| XM_011522982.1:c.-42C>T (GALNS) | XP_011521284.1:n.-42C>T | |
| XM_011522984.1:c.-42C>T (GALNS) | XP_011521286.1:n.-42C>T | |
| NM_001323543.1:c.-321C>T (GALNS) | NP_001310472.1:n.-321C>T | |
| NM_001323544.1:c.-42C>T (GALNS) | NP_001310473.1:n.-42C>T | |
| NR_134671.1:n.27+521G>A (TRAPPC2L) | ||
| XM_005256301.3:c.111C>T (GALNS) | XP_005256358.1:p.Leu37= | |
| XM_011522982.2:c.-42C>T (GALNS) | XP_011521284.1:n.-42C>T | |
| XM_017023113.1:c.-321C>T (GALNS) | XP_016878602.1:n.-321C>T | |
| NM_000512.5:c.111C>T (GALNS) MANE Select | NP_000503.1:p.Leu37= | |
| NM_001323543.2:c.-321C>T (GALNS) | NP_001310472.1:n.-321C>T | |
| NM_001323544.2:c.-42C>T (GALNS) | NP_001310473.1:n.-42C>T | |
| NR_134671.2:n.27+521G>A (TRAPPC2L) |