Canonical Allele Identifier: CA397092406

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814440T>C , CM000678.2:g.88814440T>C	GRCh38
NC_000016.9:g.88880848T>C , CM000678.1:g.88880848T>C	GRCh37
NC_000016.8:g.87408349T>C	NCBI36
NG_008013.1:g.2495A>G
NG_008667.1:g.47527A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1568A>G MANE Select	NP_000503.1:p.Ter523Trp
ENST00000268695.10:c.1568A>G MANE Select	ENSP00000268695.5:p.Ter523Trp
NM_000512.4:c.1568A>G	NP_000503.1:p.Ter523Trp
NM_001323543.1:c.1013A>G	NP_001310472.1:p.Ter338Trp
NM_001323543.2:c.1013A>G	NP_001310472.1:p.Ter338Trp
NM_001323544.1:c.1586A>G	NP_001310473.1:p.Ter529Trp
NM_001323544.2:c.1586A>G	NP_001310473.1:p.Ter529Trp
ENST00000268695.9:c.1568A>G	ENSP00000268695.5:p.Ter523Trp
ENST00000562593.5:n.4977A>G
ENST00000567525.5:c.1249A>G	ENSP00000454484.1:n.1249A>G
ENST00000568613.5:c.1687A>G	ENSP00000457921.1:n.1687A>G
XM_005256301.3:c.*2732A>G	XP_005256358.1:n.*2732A>G
XM_005256302.1:c.1586A>G	XP_005256359.1:p.Ter529Trp
XM_011522982.2:c.*2732A>G	XP_011521284.1:n.*2732A>G
XM_017023112.2:c.*2990A>G	XP_016878601.1:n.*2990A>G
XM_017023113.1:c.*2732A>G	XP_016878602.1:n.*2732A>G