Canonical Allele Identifier: CA2241328652

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841955G= , CM000678.2:g.88841955G=	GRCh38
NC_000016.9:g.88908363G= , CM000678.1:g.88908363G=	GRCh37
NC_000016.8:g.87435864G=	NCBI36
NG_008667.1:g.20012C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.261C= MANE Select	ENSP00000268695.5:p.Leu87=
ENST00000268695.9:c.261C=	ENSP00000268695.5:p.Leu87=
ENST00000562593.5:n.3670C=
ENST00000562831.1:c.45C=	ENSP00000455174.1:p.Leu15=
ENST00000565364.1:n.396C=
ENST00000567525.5:c.86C=	ENSP00000454484.1:p.Ser29=
ENST00000567779.1:n.91C=
ENST00000568613.5:c.380C=	ENSP00000457921.1:n.380C=
NM_000512.4:c.261C=	NP_000503.1:p.Leu87=
XM_005256301.2:c.261C=	XP_005256358.1:p.Leu87=
XM_005256302.1:c.279C=	XP_005256359.1:p.Leu93=
XM_011522982.1:c.279C=	XP_011521284.1:p.Leu93=
XM_011522984.1:c.279C=	XP_011521286.1:p.Leu93=
NM_001323543.1:c.-295C=	NP_001310472.1:n.-295C=
NM_001323544.1:c.279C=	NP_001310473.1:p.Leu93=
XM_005256301.3:c.261C=	XP_005256358.1:p.Leu87=
XM_011522982.2:c.279C=	XP_011521284.1:p.Leu93=
XM_017023111.2:c.279C=	XP_016878600.1:p.Leu93=
XM_017023112.2:c.279C=	XP_016878601.1:p.Leu93=
XM_017023113.1:c.-295C=	XP_016878602.1:n.-295C=
NM_000512.5:c.261C= MANE Select	NP_000503.1:p.Leu87=
NM_001323543.2:c.-295C=	NP_001310472.1:n.-295C=
NM_001323544.2:c.279C=	NP_001310473.1:p.Leu93=