Canonical Allele Identifier: CA397089321

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048448
• ClinVar RCV Id: RCV001578549
• dbSNP Id: rs1160480473
• MyVariant Identifiers: chr16:g.88908359C>A (hg19) ; chr16:g.88841951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841951C>A , CM000678.2:g.88841951C>A	GRCh38
NC_000016.9:g.88908359C>A , CM000678.1:g.88908359C>A	GRCh37
NC_000016.8:g.87435860C>A	NCBI36
NG_008667.1:g.20016G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.265G>T MANE Select	ENSP00000268695.5:p.Gly89Ter
ENST00000268695.9:c.265G>T	ENSP00000268695.5:p.Gly89Ter
ENST00000562593.5:n.3674G>T
ENST00000562831.1:c.49G>T	ENSP00000455174.1:p.Gly17Ter
ENST00000565364.1:n.400G>T
ENST00000567525.5:c.90G>T	ENSP00000454484.1:p.Gln30His
ENST00000567779.1:n.95G>T
ENST00000568613.5:c.384G>T	ENSP00000457921.1:n.384G>T
NM_000512.4:c.265G>T	NP_000503.1:p.Gly89Ter
XM_005256301.2:c.265G>T	XP_005256358.1:p.Gly89Ter
XM_005256302.1:c.283G>T	XP_005256359.1:p.Gly95Ter
XM_011522982.1:c.283G>T	XP_011521284.1:p.Gly95Ter
XM_011522984.1:c.283G>T	XP_011521286.1:p.Gly95Ter
NM_001323543.1:c.-291G>T	NP_001310472.1:n.-291G>T
NM_001323544.1:c.283G>T	NP_001310473.1:p.Gly95Ter
XM_005256301.3:c.265G>T	XP_005256358.1:p.Gly89Ter
XM_011522982.2:c.283G>T	XP_011521284.1:p.Gly95Ter
XM_017023111.2:c.283G>T	XP_016878600.1:p.Gly95Ter
XM_017023112.2:c.283G>T	XP_016878601.1:p.Gly95Ter
XM_017023113.1:c.-291G>T	XP_016878602.1:n.-291G>T
NM_000512.5:c.265G>T MANE Select	NP_000503.1:p.Gly89Ter
NM_001323543.2:c.-291G>T	NP_001310472.1:n.-291G>T
NM_001323544.2:c.283G>T	NP_001310473.1:p.Gly95Ter