Canonical Allele Identifier: CA397097706

Gene: GALNS

Linked Data

• dbSNP Id: rs118204437
• gnomAD v3: 16-88824853-G-C
• gnomAD v4: 16-88824853-G-C
• MyVariant Identifiers: chr16:g.88891261G>C (hg19) ; chr16:g.88824853G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824853G>C , CM000678.2:g.88824853G>C	GRCh38
NC_000016.9:g.88891261G>C , CM000678.1:g.88891261G>C	GRCh37
NC_000016.8:g.87418762G>C	NCBI36
NG_008667.1:g.37114C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1156C>G MANE Select	ENSP00000268695.5:p.Arg386Gly
ENST00000268695.9:c.1156C>G	ENSP00000268695.5:p.Arg386Gly
ENST00000562593.5:n.4565C>G
ENST00000564263.1:n.432C>G
ENST00000567525.5:c.837C>G	ENSP00000454484.1:n.837C>G
ENST00000568613.5:c.1275C>G	ENSP00000457921.1:n.1275C>G
NM_000512.4:c.1156C>G	NP_000503.1:p.Arg386Gly
XM_005256301.2:c.1156C>G	XP_005256358.1:p.Arg386Gly
XM_005256302.1:c.1174C>G	XP_005256359.1:p.Arg392Gly
XM_011522982.1:c.1174C>G	XP_011521284.1:p.Arg392Gly
XM_011522984.1:c.1174C>G	XP_011521286.1:p.Arg392Gly
NM_001323543.1:c.601C>G	NP_001310472.1:p.Arg201Gly
NM_001323544.1:c.1174C>G	NP_001310473.1:p.Arg392Gly
XM_005256301.3:c.1156C>G	XP_005256358.1:p.Arg386Gly
XM_011522982.2:c.1174C>G	XP_011521284.1:p.Arg392Gly
XM_017023111.2:c.1174C>G	XP_016878600.1:p.Arg392Gly
XM_017023112.2:c.1174C>G	XP_016878601.1:p.Arg392Gly
XM_017023113.1:c.601C>G	XP_016878602.1:p.Arg201Gly
NM_000512.5:c.1156C>G MANE Select	NP_000503.1:p.Arg386Gly
NM_001323543.2:c.601C>G	NP_001310472.1:p.Arg201Gly
NM_001323544.2:c.1174C>G	NP_001310473.1:p.Arg392Gly