Canonical Allele Identifier: CA8235041

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835845G>A , CM000678.2:g.88835845G>A	GRCh38
NC_000016.9:g.88902253G>A , CM000678.1:g.88902253G>A	GRCh37
NC_000016.8:g.87429754G>A	NCBI36
NG_008667.1:g.26122C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.638C>T MANE Select	NP_000503.1:p.Ala213Val
ENST00000268695.10:c.638C>T MANE Select	ENSP00000268695.5:p.Ala213Val
NM_000512.4:c.638C>T	NP_000503.1:p.Ala213Val
NM_001323543.1:c.83C>T	NP_001310472.1:p.Ala28Val
NM_001323543.2:c.83C>T	NP_001310472.1:p.Ala28Val
NM_001323544.1:c.656C>T	NP_001310473.1:p.Ala219Val
NM_001323544.2:c.656C>T	NP_001310473.1:p.Ala219Val
ENST00000268695.9:c.638C>T	ENSP00000268695.5:p.Ala213Val
ENST00000562593.5:n.4047C>T
ENST00000562831.1:c.422C>T	ENSP00000455174.1:p.Ala141Val
ENST00000562931.5:n.226C>T
ENST00000566563.1:n.340C>T
ENST00000567525.5:c.319C>T	ENSP00000454484.1:n.319C>T
ENST00000568613.5:c.757C>T	ENSP00000457921.1:n.757C>T
XM_005256301.2:c.638C>T	XP_005256358.1:p.Ala213Val
XM_005256301.3:c.638C>T	XP_005256358.1:p.Ala213Val
XM_005256302.1:c.656C>T	XP_005256359.1:p.Ala219Val
XM_011522982.1:c.656C>T	XP_011521284.1:p.Ala219Val
XM_011522982.2:c.656C>T	XP_011521284.1:p.Ala219Val
XM_011522984.1:c.656C>T	XP_011521286.1:p.Ala219Val
XM_017023111.2:c.656C>T	XP_016878600.1:p.Ala219Val
XM_017023112.2:c.656C>T	XP_016878601.1:p.Ala219Val
XM_017023113.1:c.83C>T	XP_016878602.1:p.Ala28Val