Canonical Allele Identifier: CA497091311

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814499C>T , CM000678.2:g.88814499C>T	GRCh38
NC_000016.9:g.88880907C>T , CM000678.1:g.88880907C>T	GRCh37
NC_000016.8:g.87408408C>T	NCBI36
NG_008013.1:g.2436G>A
NG_008667.1:g.47468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1509G>A MANE Select	ENSP00000268695.5:p.Lys503=
ENST00000268695.9:c.1509G>A	ENSP00000268695.5:p.Lys503=
ENST00000562593.5:n.4918G>A
ENST00000567525.5:c.1190G>A	ENSP00000454484.1:n.1190G>A
ENST00000568613.5:c.1628G>A	ENSP00000457921.1:n.1628G>A
NM_000512.4:c.1509G>A	NP_000503.1:p.Lys503=
XM_005256302.1:c.1527G>A	XP_005256359.1:p.Lys509=
NM_001323543.1:c.954G>A	NP_001310472.1:p.Lys318=
NM_001323544.1:c.1527G>A	NP_001310473.1:p.Lys509=
XM_005256301.3:c.*2673G>A	XP_005256358.1:n.*2673G>A
XM_011522982.2:c.*2673G>A	XP_011521284.1:n.*2673G>A
XM_017023112.2:c.*2931G>A	XP_016878601.1:n.*2931G>A
XM_017023113.1:c.*2673G>A	XP_016878602.1:n.*2673G>A
NM_000512.5:c.1509G>A MANE Select	NP_000503.1:p.Lys503=
NM_001323543.2:c.954G>A	NP_001310472.1:p.Lys318=
NM_001323544.2:c.1527G>A	NP_001310473.1:p.Lys509=