Canonical Allele Identifier: CA2241328111

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841002C= , CM000678.2:g.88841002C=	GRCh38
NC_000016.9:g.88907410C= , CM000678.1:g.88907410C=	GRCh37
NC_000016.8:g.87434911C=	NCBI36
NG_008667.1:g.20965G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.412G= MANE Select	ENSP00000268695.5:p.Val138=
ENST00000268695.9:c.412G=	ENSP00000268695.5:p.Val138=
ENST00000562593.5:n.3821G=
ENST00000562831.1:c.196G=	ENSP00000455174.1:p.Val66=
ENST00000565364.1:n.547G=
ENST00000567525.5:c.237G=	ENSP00000454484.1:n.237G=
ENST00000567779.1:n.242G=
ENST00000568613.5:c.531G=	ENSP00000457921.1:n.531G=
NM_000512.4:c.412G=	NP_000503.1:p.Val138=
XM_005256301.2:c.412G=	XP_005256358.1:p.Val138=
XM_005256302.1:c.430G=	XP_005256359.1:p.Val144=
XM_011522982.1:c.430G=	XP_011521284.1:p.Val144=
XM_011522984.1:c.430G=	XP_011521286.1:p.Val144=
NM_001323543.1:c.-144G=	NP_001310472.1:n.-144G=
NM_001323544.1:c.430G=	NP_001310473.1:p.Val144=
XM_005256301.3:c.412G=	XP_005256358.1:p.Val138=
XM_011522982.2:c.430G=	XP_011521284.1:p.Val144=
XM_017023111.2:c.430G=	XP_016878600.1:p.Val144=
XM_017023112.2:c.430G=	XP_016878601.1:p.Val144=
XM_017023113.1:c.-144G=	XP_016878602.1:n.-144G=
NM_000512.5:c.412G= MANE Select	NP_000503.1:p.Val138=
NM_001323543.2:c.-144G=	NP_001310472.1:n.-144G=
NM_001323544.2:c.430G=	NP_001310473.1:p.Val144=