Canonical Allele Identifier: CA8234771
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 321193
dbSNP Id: rs377067312

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88824764T>C , CM000678.2:g.88824764T>C GRCh38
NC_000016.9:g.88891172T>C , CM000678.1:g.88891172T>C GRCh37
NC_000016.8:g.87418673T>C NCBI36
NG_008667.1:g.37203A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.1242+3A>G MANE Select ENSP00000268695.5:n.1242+3A>G
ENST00000268695.9:c.1242+3A>G ENSP00000268695.5:n.1242+3A>G
ENST00000562593.5:n.4651+3A>G
ENST00000567525.5:c.923+3A>G ENSP00000454484.1:n.923+3A>G
ENST00000568613.5:c.1361+3A>G ENSP00000457921.1:n.1361+3A>G
NM_000512.4:c.1242+3A>G NP_000503.1:n.1242+3A>G
XM_005256301.2:c.1242+3A>G XP_005256358.1:n.1242+3A>G
XM_005256302.1:c.1260+3A>G XP_005256359.1:n.1260+3A>G
XM_011522982.1:c.1260+3A>G XP_011521284.1:n.1260+3A>G
XM_011522984.1:c.1260+3A>G XP_011521286.1:n.1260+3A>G
NM_001323543.1:c.687+3A>G NP_001310472.1:n.687+3A>G
NM_001323544.1:c.1260+3A>G NP_001310473.1:n.1260+3A>G
XM_005256301.3:c.1242+3A>G XP_005256358.1:n.1242+3A>G
XM_011522982.2:c.1260+3A>G XP_011521284.1:n.1260+3A>G
XM_017023111.2:c.1260+3A>G XP_016878600.1:n.1260+3A>G
XM_017023112.2:c.1260+3A>G XP_016878601.1:n.1260+3A>G
XM_017023113.1:c.687+3A>G XP_016878602.1:n.687+3A>G
XM_017023970.1:c.*42T>C XP_016879459.1:n.*42T>C
NM_000512.5:c.1242+3A>G MANE Select NP_000503.1:n.1242+3A>G
NM_001323543.2:c.687+3A>G NP_001310472.1:n.687+3A>G
NM_001323544.2:c.1260+3A>G NP_001310473.1:n.1260+3A>G