Canonical Allele Identifier: CA8235004

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835726G>A , CM000678.2:g.88835726G>A	GRCh38
NC_000016.9:g.88902134G>A , CM000678.1:g.88902134G>A	GRCh37
NC_000016.8:g.87429635G>A	NCBI36
NG_008667.1:g.26241C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.757C>T MANE Select	NP_000503.1:p.Arg253Trp
ENST00000268695.10:c.757C>T MANE Select	ENSP00000268695.5:p.Arg253Trp
NM_000512.4:c.757C>T	NP_000503.1:p.Arg253Trp
NM_001323543.1:c.202C>T	NP_001310472.1:p.Arg68Trp
NM_001323543.2:c.202C>T	NP_001310472.1:p.Arg68Trp
NM_001323544.1:c.775C>T	NP_001310473.1:p.Arg259Trp
NM_001323544.2:c.775C>T	NP_001310473.1:p.Arg259Trp
ENST00000268695.9:c.757C>T	ENSP00000268695.5:p.Arg253Trp
ENST00000562593.5:n.4166C>T
ENST00000562931.5:n.345C>T
ENST00000567525.5:c.438C>T	ENSP00000454484.1:n.438C>T
ENST00000568613.5:c.876C>T	ENSP00000457921.1:n.876C>T
XM_005256301.2:c.757C>T	XP_005256358.1:p.Arg253Trp
XM_005256301.3:c.757C>T	XP_005256358.1:p.Arg253Trp
XM_005256302.1:c.775C>T	XP_005256359.1:p.Arg259Trp
XM_011522982.1:c.775C>T	XP_011521284.1:p.Arg259Trp
XM_011522982.2:c.775C>T	XP_011521284.1:p.Arg259Trp
XM_011522984.1:c.775C>T	XP_011521286.1:p.Arg259Trp
XM_017023111.2:c.775C>T	XP_016878600.1:p.Arg259Trp
XM_017023112.2:c.775C>T	XP_016878601.1:p.Arg259Trp
XM_017023113.1:c.202C>T	XP_016878602.1:p.Arg68Trp