Canonical Allele Identifier: CA397097768

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048227
• ClinVar RCV Id: RCV001578329
• dbSNP Id: rs200763834
• MyVariant Identifiers: chr16:g.88891277C>A (hg19) ; chr16:g.88824869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824869C>A , CM000678.2:g.88824869C>A	GRCh38
NC_000016.9:g.88891277C>A , CM000678.1:g.88891277C>A	GRCh37
NC_000016.8:g.87418778C>A	NCBI36
NG_008667.1:g.37098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1140G>T MANE Select	ENSP00000268695.5:p.Arg380Ser
ENST00000268695.9:c.1140G>T	ENSP00000268695.5:p.Arg380Ser
ENST00000562593.5:n.4549G>T
ENST00000564263.1:n.416G>T
ENST00000567525.5:c.821G>T	ENSP00000454484.1:n.821G>T
ENST00000568613.5:c.1259G>T	ENSP00000457921.1:n.1259G>T
NM_000512.4:c.1140G>T	NP_000503.1:p.Arg380Ser
XM_005256301.2:c.1140G>T	XP_005256358.1:p.Arg380Ser
XM_005256302.1:c.1158G>T	XP_005256359.1:p.Arg386Ser
XM_011522982.1:c.1158G>T	XP_011521284.1:p.Arg386Ser
XM_011522984.1:c.1158G>T	XP_011521286.1:p.Arg386Ser
NM_001323543.1:c.585G>T	NP_001310472.1:p.Arg195Ser
NM_001323544.1:c.1158G>T	NP_001310473.1:p.Arg386Ser
XM_005256301.3:c.1140G>T	XP_005256358.1:p.Arg380Ser
XM_011522982.2:c.1158G>T	XP_011521284.1:p.Arg386Ser
XM_017023111.2:c.1158G>T	XP_016878600.1:p.Arg386Ser
XM_017023112.2:c.1158G>T	XP_016878601.1:p.Arg386Ser
XM_017023113.1:c.585G>T	XP_016878602.1:p.Arg195Ser
NM_000512.5:c.1140G>T MANE Select	NP_000503.1:p.Arg380Ser
NM_001323543.2:c.585G>T	NP_001310472.1:p.Arg195Ser
NM_001323544.2:c.1158G>T	NP_001310473.1:p.Arg386Ser