Canonical Allele Identifier: CA2241317354

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824842C= , CM000678.2:g.88824842C=	GRCh38
NC_000016.9:g.88891250C= , CM000678.1:g.88891250C=	GRCh37
NC_000016.8:g.87418751C=	NCBI36
NG_008667.1:g.37125G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1167G= MANE Select	ENSP00000268695.5:p.Thr389=
ENST00000268695.9:c.1167G=	ENSP00000268695.5:p.Thr389=
ENST00000562593.5:n.4576G=
ENST00000564263.1:n.443G=
ENST00000567525.5:c.848G=	ENSP00000454484.1:n.848G=
ENST00000568613.5:c.1286G=	ENSP00000457921.1:n.1286G=
NM_000512.4:c.1167G=	NP_000503.1:p.Thr389=
XM_005256301.2:c.1167G=	XP_005256358.1:p.Thr389=
XM_005256302.1:c.1185G=	XP_005256359.1:p.Thr395=
XM_011522982.1:c.1185G=	XP_011521284.1:p.Thr395=
XM_011522984.1:c.1185G=	XP_011521286.1:p.Thr395=
NM_001323543.1:c.612G=	NP_001310472.1:p.Thr204=
NM_001323544.1:c.1185G=	NP_001310473.1:p.Thr395=
XM_005256301.3:c.1167G=	XP_005256358.1:p.Thr389=
XM_011522982.2:c.1185G=	XP_011521284.1:p.Thr395=
XM_017023111.2:c.1185G=	XP_016878600.1:p.Thr395=
XM_017023112.2:c.1185G=	XP_016878601.1:p.Thr395=
XM_017023113.1:c.612G=	XP_016878602.1:p.Thr204=
NM_000512.5:c.1167G= MANE Select	NP_000503.1:p.Thr389=
NM_001323543.2:c.612G=	NP_001310472.1:p.Thr204=
NM_001323544.2:c.1185G=	NP_001310473.1:p.Thr395=