Canonical Allele Identifier: CA2241324549

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835257A= , CM000678.2:g.88835257A=	GRCh38
NC_000016.9:g.88901665A= , CM000678.1:g.88901665A=	GRCh37
NC_000016.8:g.87429166A=	NCBI36
NG_008667.1:g.26710T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.854T= MANE Select	ENSP00000268695.5:p.Phe285=
ENST00000268695.9:c.854T=	ENSP00000268695.5:p.Phe285=
ENST00000562593.5:n.4263T=
ENST00000562931.5:n.442T=
ENST00000567525.5:c.535T=	ENSP00000454484.1:n.535T=
ENST00000568613.5:c.973T=	ENSP00000457921.1:n.973T=
NM_000512.4:c.854T=	NP_000503.1:p.Phe285=
XM_005256301.2:c.854T=	XP_005256358.1:p.Phe285=
XM_005256302.1:c.872T=	XP_005256359.1:p.Phe291=
XM_011522982.1:c.872T=	XP_011521284.1:p.Phe291=
XM_011522984.1:c.872T=	XP_011521286.1:p.Phe291=
NM_001323543.1:c.299T=	NP_001310472.1:p.Phe100=
NM_001323544.1:c.872T=	NP_001310473.1:p.Phe291=
XM_005256301.3:c.854T=	XP_005256358.1:p.Phe285=
XM_011522982.2:c.872T=	XP_011521284.1:p.Phe291=
XM_017023111.2:c.872T=	XP_016878600.1:p.Phe291=
XM_017023112.2:c.872T=	XP_016878601.1:p.Phe291=
XM_017023113.1:c.299T=	XP_016878602.1:p.Phe100=
NM_000512.5:c.854T= MANE Select	NP_000503.1:p.Phe285=
NM_001323543.2:c.299T=	NP_001310472.1:p.Phe100=
NM_001323544.2:c.872T=	NP_001310473.1:p.Phe291=