Canonical Allele Identifier: CA243181
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 196279
dbSNP Id: rs777179922

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88841882C>A , CM000678.2:g.88841882C>A GRCh38
NC_000016.9:g.88908290C>A , CM000678.1:g.88908290C>A GRCh37
NC_000016.8:g.87435791C>A NCBI36
NG_008667.1:g.20085G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.319+15G>T MANE Select ENSP00000268695.5:n.319+15G>T
ENST00000268695.9:c.319+15G>T ENSP00000268695.5:n.319+15G>T
ENST00000562593.5:n.3728+15G>T
ENST00000562831.1:c.103+15G>T ENSP00000455174.1:n.103+15G>T
ENST00000565364.1:n.454+15G>T
ENST00000567525.5:c.144+15G>T ENSP00000454484.1:n.144+15G>T
ENST00000567779.1:n.149+15G>T
ENST00000568613.5:c.438+15G>T ENSP00000457921.1:n.438+15G>T
NM_000512.4:c.319+15G>T NP_000503.1:n.319+15G>T
XM_005256301.2:c.319+15G>T XP_005256358.1:n.319+15G>T
XM_005256302.1:c.337+15G>T XP_005256359.1:n.337+15G>T
XM_011522982.1:c.337+15G>T XP_011521284.1:n.337+15G>T
XM_011522984.1:c.337+15G>T XP_011521286.1:n.337+15G>T
NM_001323543.1:c.-237+15G>T NP_001310472.1:n.-237+15G>T
NM_001323544.1:c.337+15G>T NP_001310473.1:n.337+15G>T
XM_005256301.3:c.319+15G>T XP_005256358.1:n.319+15G>T
XM_011522982.2:c.337+15G>T XP_011521284.1:n.337+15G>T
XM_017023111.2:c.337+15G>T XP_016878600.1:n.337+15G>T
XM_017023112.2:c.337+15G>T XP_016878601.1:n.337+15G>T
XM_017023113.1:c.-237+15G>T XP_016878602.1:n.-237+15G>T
NM_000512.5:c.319+15G>T MANE Select NP_000503.1:n.319+15G>T
NM_001323543.2:c.-237+15G>T NP_001310472.1:n.-237+15G>T
NM_001323544.2:c.337+15G>T NP_001310473.1:n.337+15G>T