Canonical Allele Identifier: CA8234844
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 321197
ClinVar RCV Id: RCV000377728
dbSNP Id: rs753249472

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88826848A>G , CM000678.2:g.88826848A>G GRCh38
NC_000016.9:g.88893256A>G , CM000678.1:g.88893256A>G GRCh37
NC_000016.8:g.87420757A>G NCBI36
NG_008667.1:g.35119T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.1003-10T>C MANE Select ENSP00000268695.5:n.1003-10T>C
ENST00000268695.9:c.1003-10T>C ENSP00000268695.5:n.1003-10T>C
ENST00000562593.5:n.4412-10T>C
ENST00000564263.1:n.269T>C
ENST00000567525.5:c.684-10T>C ENSP00000454484.1:n.684-10T>C
ENST00000568613.5:c.1122-10T>C ENSP00000457921.1:n.1122-10T>C
NM_000512.4:c.1003-10T>C NP_000503.1:n.1003-10T>C
XM_005256301.2:c.1003-10T>C XP_005256358.1:n.1003-10T>C
XM_005256302.1:c.1021-10T>C XP_005256359.1:n.1021-10T>C
XM_011522982.1:c.1021-10T>C XP_011521284.1:n.1021-10T>C
XM_011522984.1:c.1021-10T>C XP_011521286.1:n.1021-10T>C
NM_001323543.1:c.448-10T>C NP_001310472.1:n.448-10T>C
NM_001323544.1:c.1021-10T>C NP_001310473.1:n.1021-10T>C
XM_005256301.3:c.1003-10T>C XP_005256358.1:n.1003-10T>C
XM_011522982.2:c.1021-10T>C XP_011521284.1:n.1021-10T>C
XM_017023111.2:c.1021-10T>C XP_016878600.1:n.1021-10T>C
XM_017023112.2:c.1021-10T>C XP_016878601.1:n.1021-10T>C
XM_017023113.1:c.448-10T>C XP_016878602.1:n.448-10T>C
NM_000512.5:c.1003-10T>C MANE Select NP_000503.1:n.1003-10T>C
NM_001323543.2:c.448-10T>C NP_001310472.1:n.448-10T>C
NM_001323544.2:c.1021-10T>C NP_001310473.1:n.1021-10T>C