Canonical Allele Identifier: CA2241324570

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835295G= , CM000678.2:g.88835295G=	GRCh38
NC_000016.9:g.88901703G= , CM000678.1:g.88901703G=	GRCh37
NC_000016.8:g.87429204G=	NCBI36
NG_008667.1:g.26672C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.816C= MANE Select	ENSP00000268695.5:p.Leu272=
ENST00000268695.9:c.816C=	ENSP00000268695.5:p.Leu272=
ENST00000562593.5:n.4225C=
ENST00000562931.5:n.404C=
ENST00000567525.5:c.497C=	ENSP00000454484.1:n.497C=
ENST00000568613.5:c.935C=	ENSP00000457921.1:n.935C=
NM_000512.4:c.816C=	NP_000503.1:p.Leu272=
XM_005256301.2:c.816C=	XP_005256358.1:p.Leu272=
XM_005256302.1:c.834C=	XP_005256359.1:p.Leu278=
XM_011522982.1:c.834C=	XP_011521284.1:p.Leu278=
XM_011522984.1:c.834C=	XP_011521286.1:p.Leu278=
NM_001323543.1:c.261C=	NP_001310472.1:p.Leu87=
NM_001323544.1:c.834C=	NP_001310473.1:p.Leu278=
XM_005256301.3:c.816C=	XP_005256358.1:p.Leu272=
XM_011522982.2:c.834C=	XP_011521284.1:p.Leu278=
XM_017023111.2:c.834C=	XP_016878600.1:p.Leu278=
XM_017023112.2:c.834C=	XP_016878601.1:p.Leu278=
XM_017023113.1:c.261C=	XP_016878602.1:p.Leu87=
NM_000512.5:c.816C= MANE Select	NP_000503.1:p.Leu272=
NM_001323543.2:c.261C=	NP_001310472.1:p.Leu87=
NM_001323544.2:c.834C=	NP_001310473.1:p.Leu278=