Canonical Allele Identifier: CA8235072
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 321201
ClinVar RCV Id: RCV000362450
dbSNP Id: rs200292757

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88836188C>G , CM000678.2:g.88836188C>G GRCh38
NC_000016.9:g.88902596C>G , CM000678.1:g.88902596C>G GRCh37
NC_000016.8:g.87430097C>G NCBI36
NG_008667.1:g.25779G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.633+13G>C MANE Select ENSP00000268695.5:n.633+13G>C
ENST00000268695.9:c.633+13G>C ENSP00000268695.5:n.633+13G>C
ENST00000562593.5:n.4042+13G>C
ENST00000562831.1:c.417+13G>C ENSP00000455174.1:n.417+13G>C
ENST00000562931.5:n.221+13G>C
ENST00000566563.1:n.335+13G>C
ENST00000567525.5:c.314+13G>C ENSP00000454484.1:n.314+13G>C
ENST00000568613.5:c.752+13G>C ENSP00000457921.1:n.752+13G>C
NM_000512.4:c.633+13G>C NP_000503.1:n.633+13G>C
XM_005256301.2:c.633+13G>C XP_005256358.1:n.633+13G>C
XM_005256302.1:c.651+13G>C XP_005256359.1:n.651+13G>C
XM_011522982.1:c.651+13G>C XP_011521284.1:n.651+13G>C
XM_011522984.1:c.651+13G>C XP_011521286.1:n.651+13G>C
NM_001323543.1:c.78+13G>C NP_001310472.1:n.78+13G>C
NM_001323544.1:c.651+13G>C NP_001310473.1:n.651+13G>C
XM_005256301.3:c.633+13G>C XP_005256358.1:n.633+13G>C
XM_011522982.2:c.651+13G>C XP_011521284.1:n.651+13G>C
XM_017023111.2:c.651+13G>C XP_016878600.1:n.651+13G>C
XM_017023112.2:c.651+13G>C XP_016878601.1:n.651+13G>C
XM_017023113.1:c.78+13G>C XP_016878602.1:n.78+13G>C
NM_000512.5:c.633+13G>C MANE Select NP_000503.1:n.633+13G>C
NM_001323543.2:c.78+13G>C NP_001310472.1:n.78+13G>C
NM_001323544.2:c.651+13G>C NP_001310473.1:n.651+13G>C