Canonical Allele Identifier: CA397092411

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814441A>C , CM000678.2:g.88814441A>C	GRCh38
NC_000016.9:g.88880849A>C , CM000678.1:g.88880849A>C	GRCh37
NC_000016.8:g.87408350A>C	NCBI36
NG_008013.1:g.2494T>G
NG_008667.1:g.47526T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1567T>G MANE Select	NP_000503.1:p.Ter523Glu
ENST00000268695.10:c.1567T>G MANE Select	ENSP00000268695.5:p.Ter523Glu
NM_000512.4:c.1567T>G	NP_000503.1:p.Ter523Glu
NM_001323543.1:c.1012T>G	NP_001310472.1:p.Ter338Glu
NM_001323543.2:c.1012T>G	NP_001310472.1:p.Ter338Glu
NM_001323544.1:c.1585T>G	NP_001310473.1:p.Ter529Glu
NM_001323544.2:c.1585T>G	NP_001310473.1:p.Ter529Glu
ENST00000268695.9:c.1567T>G	ENSP00000268695.5:p.Ter523Glu
ENST00000562593.5:n.4976T>G
ENST00000567525.5:c.1248T>G	ENSP00000454484.1:n.1248T>G
ENST00000568613.5:c.1686T>G	ENSP00000457921.1:n.1686T>G
XM_005256301.3:c.*2731T>G	XP_005256358.1:n.*2731T>G
XM_005256302.1:c.1585T>G	XP_005256359.1:p.Ter529Glu
XM_011522982.2:c.*2731T>G	XP_011521284.1:n.*2731T>G
XM_017023112.2:c.*2989T>G	XP_016878601.1:n.*2989T>G
XM_017023113.1:c.*2731T>G	XP_016878602.1:n.*2731T>G