Canonical Allele Identifier: CA497080123

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88908366C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841958C>A , CM000678.2:g.88841958C>A	GRCh38
NC_000016.9:g.88908366C>A , CM000678.1:g.88908366C>A	GRCh37
NC_000016.8:g.87435867C>A	NCBI36
NG_008667.1:g.20009G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.258G>T MANE Select	ENSP00000268695.5:p.Leu86=
ENST00000268695.9:c.258G>T	ENSP00000268695.5:p.Leu86=
ENST00000562593.5:n.3667G>T
ENST00000562831.1:c.42G>T	ENSP00000455174.1:p.Leu14=
ENST00000565364.1:n.393G>T
ENST00000567525.5:c.83G>T	ENSP00000454484.1:p.Cys28Phe
ENST00000567779.1:n.88G>T
ENST00000568613.5:c.377G>T	ENSP00000457921.1:n.377G>T
NM_000512.4:c.258G>T	NP_000503.1:p.Leu86=
XM_005256301.2:c.258G>T	XP_005256358.1:p.Leu86=
XM_005256302.1:c.276G>T	XP_005256359.1:p.Leu92=
XM_011522982.1:c.276G>T	XP_011521284.1:p.Leu92=
XM_011522984.1:c.276G>T	XP_011521286.1:p.Leu92=
NM_001323543.1:c.-298G>T	NP_001310472.1:n.-298G>T
NM_001323544.1:c.276G>T	NP_001310473.1:p.Leu92=
XM_005256301.3:c.258G>T	XP_005256358.1:p.Leu86=
XM_011522982.2:c.276G>T	XP_011521284.1:p.Leu92=
XM_017023111.2:c.276G>T	XP_016878600.1:p.Leu92=
XM_017023112.2:c.276G>T	XP_016878601.1:p.Leu92=
XM_017023113.1:c.-298G>T	XP_016878602.1:n.-298G>T
NM_000512.5:c.258G>T MANE Select	NP_000503.1:p.Leu86=
NM_001323543.2:c.-298G>T	NP_001310472.1:n.-298G>T
NM_001323544.2:c.276G>T	NP_001310473.1:p.Leu92=