Canonical Allele Identifier: CA2241317353

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824839C= , CM000678.2:g.88824839C=	GRCh38
NC_000016.9:g.88891247C= , CM000678.1:g.88891247C=	GRCh37
NC_000016.8:g.87418748C=	NCBI36
NG_008667.1:g.37128G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1170G= MANE Select	ENSP00000268695.5:p.Leu390=
ENST00000268695.9:c.1170G=	ENSP00000268695.5:p.Leu390=
ENST00000562593.5:n.4579G=
ENST00000564263.1:n.446G=
ENST00000567525.5:c.851G=	ENSP00000454484.1:n.851G=
ENST00000568613.5:c.1289G=	ENSP00000457921.1:n.1289G=
NM_000512.4:c.1170G=	NP_000503.1:p.Leu390=
XM_005256301.2:c.1170G=	XP_005256358.1:p.Leu390=
XM_005256302.1:c.1188G=	XP_005256359.1:p.Leu396=
XM_011522982.1:c.1188G=	XP_011521284.1:p.Leu396=
XM_011522984.1:c.1188G=	XP_011521286.1:p.Leu396=
NM_001323543.1:c.615G=	NP_001310472.1:p.Leu205=
NM_001323544.1:c.1188G=	NP_001310473.1:p.Leu396=
XM_005256301.3:c.1170G=	XP_005256358.1:p.Leu390=
XM_011522982.2:c.1188G=	XP_011521284.1:p.Leu396=
XM_017023111.2:c.1188G=	XP_016878600.1:p.Leu396=
XM_017023112.2:c.1188G=	XP_016878601.1:p.Leu396=
XM_017023113.1:c.615G=	XP_016878602.1:p.Leu205=
NM_000512.5:c.1170G= MANE Select	NP_000503.1:p.Leu390=
NM_001323543.2:c.615G=	NP_001310472.1:p.Leu205=
NM_001323544.2:c.1188G=	NP_001310473.1:p.Leu396=