Canonical Allele Identifier: CA2241318885

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826728G= , CM000678.2:g.88826728G=	GRCh38
NC_000016.9:g.88893136G= , CM000678.1:g.88893136G=	GRCh37
NC_000016.8:g.87420637G=	NCBI36
NG_008667.1:g.35239C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1113C= MANE Select	ENSP00000268695.5:p.Thr371=
ENST00000268695.9:c.1113C=	ENSP00000268695.5:p.Thr371=
ENST00000562593.5:n.4522C=
ENST00000564263.1:n.389C=
ENST00000567525.5:c.794C=	ENSP00000454484.1:n.794C=
ENST00000568613.5:c.1232C=	ENSP00000457921.1:n.1232C=
NM_000512.4:c.1113C=	NP_000503.1:p.Thr371=
XM_005256301.2:c.1113C=	XP_005256358.1:p.Thr371=
XM_005256302.1:c.1131C=	XP_005256359.1:p.Thr377=
XM_011522982.1:c.1131C=	XP_011521284.1:p.Thr377=
XM_011522984.1:c.1131C=	XP_011521286.1:p.Thr377=
NM_001323543.1:c.558C=	NP_001310472.1:p.Thr186=
NM_001323544.1:c.1131C=	NP_001310473.1:p.Thr377=
XM_005256301.3:c.1113C=	XP_005256358.1:p.Thr371=
XM_011522982.2:c.1131C=	XP_011521284.1:p.Thr377=
XM_017023111.2:c.1131C=	XP_016878600.1:p.Thr377=
XM_017023112.2:c.1131C=	XP_016878601.1:p.Thr377=
XM_017023113.1:c.558C=	XP_016878602.1:p.Thr186=
NM_000512.5:c.1113C= MANE Select	NP_000503.1:p.Thr371=
NM_001323543.2:c.558C=	NP_001310472.1:p.Thr186=
NM_001323544.2:c.1131C=	NP_001310473.1:p.Thr377=