Canonical Allele Identifier: CA397079671

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835732G>A , CM000678.2:g.88835732G>A	GRCh38
NC_000016.9:g.88902140G>A , CM000678.1:g.88902140G>A	GRCh37
NC_000016.8:g.87429641G>A	NCBI36
NG_008667.1:g.26235C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.751C>T MANE Select	NP_000503.1:p.Arg251Ter
ENST00000268695.10:c.751C>T MANE Select	ENSP00000268695.5:p.Arg251Ter
NM_000512.4:c.751C>T	NP_000503.1:p.Arg251Ter
NM_001323543.1:c.196C>T	NP_001310472.1:p.Arg66Ter
NM_001323543.2:c.196C>T	NP_001310472.1:p.Arg66Ter
NM_001323544.1:c.769C>T	NP_001310473.1:p.Arg257Ter
NM_001323544.2:c.769C>T	NP_001310473.1:p.Arg257Ter
ENST00000268695.9:c.751C>T	ENSP00000268695.5:p.Arg251Ter
ENST00000562593.5:n.4160C>T
ENST00000562931.5:n.339C>T
ENST00000566563.1:n.453C>T
ENST00000567525.5:c.432C>T	ENSP00000454484.1:n.432C>T
ENST00000568613.5:c.870C>T	ENSP00000457921.1:n.870C>T
XM_005256301.2:c.751C>T	XP_005256358.1:p.Arg251Ter
XM_005256301.3:c.751C>T	XP_005256358.1:p.Arg251Ter
XM_005256302.1:c.769C>T	XP_005256359.1:p.Arg257Ter
XM_011522982.1:c.769C>T	XP_011521284.1:p.Arg257Ter
XM_011522982.2:c.769C>T	XP_011521284.1:p.Arg257Ter
XM_011522984.1:c.769C>T	XP_011521286.1:p.Arg257Ter
XM_017023111.2:c.769C>T	XP_016878600.1:p.Arg257Ter
XM_017023112.2:c.769C>T	XP_016878601.1:p.Arg257Ter
XM_017023113.1:c.196C>T	XP_016878602.1:p.Arg66Ter