Canonical Allele Identifier: CA8234943
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 528323
ClinVar RCV Id: RCV000633461
dbSNP Id: rs761850746

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835212C>T , CM000678.2:g.88835212C>T GRCh38
NC_000016.9:g.88901620C>T , CM000678.1:g.88901620C>T GRCh37
NC_000016.8:g.87429121C>T NCBI36
NG_008667.1:g.26755G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.898+1G>A MANE Select ENSP00000268695.5:n.898+1G>A
ENST00000268695.9:c.898+1G>A ENSP00000268695.5:n.898+1G>A
ENST00000562593.5:n.4307+1G>A
ENST00000562931.5:n.486+1G>A
ENST00000567525.5:c.579+1G>A ENSP00000454484.1:n.579+1G>A
ENST00000568613.5:c.1017+1G>A ENSP00000457921.1:n.1017+1G>A
NM_000512.4:c.898+1G>A NP_000503.1:n.898+1G>A
XM_005256301.2:c.898+1G>A XP_005256358.1:n.898+1G>A
XM_005256302.1:c.916+1G>A XP_005256359.1:n.916+1G>A
XM_011522982.1:c.916+1G>A XP_011521284.1:n.916+1G>A
XM_011522984.1:c.916+1G>A XP_011521286.1:n.916+1G>A
NM_001323543.1:c.343+1G>A NP_001310472.1:n.343+1G>A
NM_001323544.1:c.916+1G>A NP_001310473.1:n.916+1G>A
XM_005256301.3:c.898+1G>A XP_005256358.1:n.898+1G>A
XM_011522982.2:c.916+1G>A XP_011521284.1:n.916+1G>A
XM_017023111.2:c.916+1G>A XP_016878600.1:n.916+1G>A
XM_017023112.2:c.916+1G>A XP_016878601.1:n.916+1G>A
XM_017023113.1:c.343+1G>A XP_016878602.1:n.343+1G>A
NM_000512.5:c.898+1G>A MANE Select NP_000503.1:n.898+1G>A
NM_001323543.2:c.343+1G>A NP_001310472.1:n.343+1G>A
NM_001323544.2:c.916+1G>A NP_001310473.1:n.916+1G>A