Canonical Allele Identifier: CA2241328149

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841077T= , CM000678.2:g.88841077T=	GRCh38
NC_000016.9:g.88907485T= , CM000678.1:g.88907485T=	GRCh37
NC_000016.8:g.87434986T=	NCBI36
NG_008667.1:g.20890A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.337A= MANE Select	ENSP00000268695.5:p.Ile113=
ENST00000268695.9:c.337A=	ENSP00000268695.5:p.Ile113=
ENST00000562593.5:n.3746A=
ENST00000562831.1:c.121A=	ENSP00000455174.1:p.Ile41=
ENST00000565364.1:n.472A=
ENST00000567525.5:c.162A=	ENSP00000454484.1:p.Arg54=
ENST00000567779.1:n.167A=
ENST00000568613.5:c.456A=	ENSP00000457921.1:n.456A=
NM_000512.4:c.337A=	NP_000503.1:p.Ile113=
XM_005256301.2:c.337A=	XP_005256358.1:p.Ile113=
XM_005256302.1:c.355A=	XP_005256359.1:p.Ile119=
XM_011522982.1:c.355A=	XP_011521284.1:p.Ile119=
XM_011522984.1:c.355A=	XP_011521286.1:p.Ile119=
NM_001323543.1:c.-219A=	NP_001310472.1:n.-219A=
NM_001323544.1:c.355A=	NP_001310473.1:p.Ile119=
XM_005256301.3:c.337A=	XP_005256358.1:p.Ile113=
XM_011522982.2:c.355A=	XP_011521284.1:p.Ile119=
XM_017023111.2:c.355A=	XP_016878600.1:p.Ile119=
XM_017023112.2:c.355A=	XP_016878601.1:p.Ile119=
XM_017023113.1:c.-219A=	XP_016878602.1:n.-219A=
NM_000512.5:c.337A= MANE Select	NP_000503.1:p.Ile113=
NM_001323543.2:c.-219A=	NP_001310472.1:n.-219A=
NM_001323544.2:c.355A=	NP_001310473.1:p.Ile119=