Canonical Allele Identifier: CA915940942

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048401
• ClinVar RCV Id: RCV001578506
• dbSNP Id: rs2143004586

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88840990dup , CM000678.2:g.88840990dup	GRCh38
NC_000016.9:g.88907398dup , CM000678.1:g.88907398dup	GRCh37
NC_000016.8:g.87434899dup	NCBI36
NG_008667.1:g.20977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.422+2dup MANE Select	ENSP00000268695.5:n.422+2dup
ENST00000268695.9:c.422+2dup	ENSP00000268695.5:n.422+2dup
ENST00000562593.5:n.3831+2dup
ENST00000562831.1:c.206+2dup	ENSP00000455174.1:n.206+2dup
ENST00000565364.1:n.557+2dup
ENST00000567525.5:c.247+2dup	ENSP00000454484.1:n.247+2dup
ENST00000567779.1:n.254dup
ENST00000568613.5:c.541+2dup	ENSP00000457921.1:n.541+2dup
NM_000512.4:c.422+2dup	NP_000503.1:n.422+2dup
XM_005256301.2:c.422+2dup	XP_005256358.1:n.422+2dup
XM_005256302.1:c.440+2dup	XP_005256359.1:n.440+2dup
XM_011522982.1:c.440+2dup	XP_011521284.1:n.440+2dup
XM_011522984.1:c.440+2dup	XP_011521286.1:n.440+2dup
NM_001323543.1:c.-134+2dup	NP_001310472.1:n.-134+2dup
NM_001323544.1:c.440+2dup	NP_001310473.1:n.440+2dup
XM_005256301.3:c.422+2dup	XP_005256358.1:n.422+2dup
XM_011522982.2:c.440+2dup	XP_011521284.1:n.440+2dup
XM_017023111.2:c.440+2dup	XP_016878600.1:n.440+2dup
XM_017023112.2:c.440+2dup	XP_016878601.1:n.440+2dup
XM_017023113.1:c.-134+2dup	XP_016878602.1:n.-134+2dup
NM_000512.5:c.422+2dup MANE Select	NP_000503.1:n.422+2dup
NM_001323543.2:c.-134+2dup	NP_001310472.1:n.-134+2dup
NM_001323544.2:c.440+2dup	NP_001310473.1:n.440+2dup