Canonical Allele Identifier: CA3000725777

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818079dup , CM000678.2:g.88818079dup	GRCh38
NC_000016.9:g.88884487dup , CM000678.1:g.88884487dup	GRCh37
NC_000016.8:g.87411988dup	NCBI36
NG_008667.1:g.43889dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1411dup MANE Select	NP_000503.1:p.Val471GlyfsTer?
ENST00000268695.10:c.1411dup MANE Select	ENSP00000268695.5:p.Val471GlyfsTer?
NM_000512.4:c.1411dup	NP_000503.1:p.Val471GlyfsTer?
NM_001323543.1:c.856dup	NP_001310472.1:p.Val286GlyfsTer?
NM_001323543.2:c.856dup	NP_001310472.1:p.Val286GlyfsTer?
NM_001323544.1:c.1429dup	NP_001310473.1:p.Val477GlyfsTer?
NM_001323544.2:c.1429dup	NP_001310473.1:p.Val477GlyfsTer?
ENST00000268695.9:c.1411dup	ENSP00000268695.5:p.Val471GlyfsTer?
ENST00000562593.5:n.4820dup
ENST00000567525.5:c.1092dup	ENSP00000454484.1:n.1092dup
ENST00000568613.5:c.1530dup	ENSP00000457921.1:n.1530dup
XM_005256301.2:c.1411dup	XP_005256358.1:p.Val471GlyfsTer?
XM_005256301.3:c.1411dup	XP_005256358.1:p.Val471GlyfsTer?
XM_005256302.1:c.1429dup	XP_005256359.1:p.Val477GlyfsTer?
XM_011522982.1:c.1429dup	XP_011521284.1:p.Val477GlyfsTer?
XM_011522982.2:c.1429dup	XP_011521284.1:p.Val477GlyfsTer?
XM_011522984.1:c.1429dup	XP_011521286.1:p.Val477GlyfsTer?
XM_017023111.2:c.1429dup	XP_016878600.1:p.Val477GlyfsTer28
XM_017023112.2:c.1429dup	XP_016878601.1:p.Val477GlyfsTer?
XM_017023113.1:c.856dup	XP_016878602.1:p.Val286GlyfsTer?