Canonical Allele Identifier: CA2241328654

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841957G= , CM000678.2:g.88841957G=	GRCh38
NC_000016.9:g.88908365G= , CM000678.1:g.88908365G=	GRCh37
NC_000016.8:g.87435866G=	NCBI36
NG_008667.1:g.20010C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.259C= MANE Select	ENSP00000268695.5:p.Leu87=
ENST00000268695.9:c.259C=	ENSP00000268695.5:p.Leu87=
ENST00000562593.5:n.3668C=
ENST00000562831.1:c.43C=	ENSP00000455174.1:p.Leu15=
ENST00000565364.1:n.394C=
ENST00000567525.5:c.84C=	ENSP00000454484.1:p.Cys28=
ENST00000567779.1:n.89C=
ENST00000568613.5:c.378C=	ENSP00000457921.1:n.378C=
NM_000512.4:c.259C=	NP_000503.1:p.Leu87=
XM_005256301.2:c.259C=	XP_005256358.1:p.Leu87=
XM_005256302.1:c.277C=	XP_005256359.1:p.Leu93=
XM_011522982.1:c.277C=	XP_011521284.1:p.Leu93=
XM_011522984.1:c.277C=	XP_011521286.1:p.Leu93=
NM_001323543.1:c.-297C=	NP_001310472.1:n.-297C=
NM_001323544.1:c.277C=	NP_001310473.1:p.Leu93=
XM_005256301.3:c.259C=	XP_005256358.1:p.Leu87=
XM_011522982.2:c.277C=	XP_011521284.1:p.Leu93=
XM_017023111.2:c.277C=	XP_016878600.1:p.Leu93=
XM_017023112.2:c.277C=	XP_016878601.1:p.Leu93=
XM_017023113.1:c.-297C=	XP_016878602.1:n.-297C=
NM_000512.5:c.259C= MANE Select	NP_000503.1:p.Leu87=
NM_001323543.2:c.-297C=	NP_001310472.1:n.-297C=
NM_001323544.2:c.277C=	NP_001310473.1:p.Leu93=