Canonical Allele Identifier: CA397087982

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841040G>T , CM000678.2:g.88841040G>T	GRCh38
NC_000016.9:g.88907448G>T , CM000678.1:g.88907448G>T	GRCh37
NC_000016.8:g.87434949G>T	NCBI36
NG_008667.1:g.20927C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.374C>A MANE Select	NP_000503.1:p.Pro125Gln
ENST00000268695.10:c.374C>A MANE Select	ENSP00000268695.5:p.Pro125Gln
NM_000512.4:c.374C>A	NP_000503.1:p.Pro125Gln
NM_001323543.1:c.-182C>A	NP_001310472.1:n.-182C>A
NM_001323543.2:c.-182C>A	NP_001310472.1:n.-182C>A
NM_001323544.1:c.392C>A	NP_001310473.1:p.Pro131Gln
NM_001323544.2:c.392C>A	NP_001310473.1:p.Pro131Gln
ENST00000268695.9:c.374C>A	ENSP00000268695.5:p.Pro125Gln
ENST00000562593.5:n.3783C>A
ENST00000562831.1:c.158C>A	ENSP00000455174.1:p.Pro53Gln
ENST00000565364.1:n.509C>A
ENST00000567525.5:c.199C>A	ENSP00000454484.1:p.Arg67=
ENST00000567779.1:n.204C>A
ENST00000568613.5:c.493C>A	ENSP00000457921.1:n.493C>A
XM_005256301.2:c.374C>A	XP_005256358.1:p.Pro125Gln
XM_005256301.3:c.374C>A	XP_005256358.1:p.Pro125Gln
XM_005256302.1:c.392C>A	XP_005256359.1:p.Pro131Gln
XM_011522982.1:c.392C>A	XP_011521284.1:p.Pro131Gln
XM_011522982.2:c.392C>A	XP_011521284.1:p.Pro131Gln
XM_011522984.1:c.392C>A	XP_011521286.1:p.Pro131Gln
XM_017023111.2:c.392C>A	XP_016878600.1:p.Pro131Gln
XM_017023112.2:c.392C>A	XP_016878601.1:p.Pro131Gln
XM_017023113.1:c.-182C>A	XP_016878602.1:n.-182C>A