Canonical Allele Identifier: CA397096398

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88822689G>A , CM000678.2:g.88822689G>A	GRCh38
NC_000016.9:g.88889097G>A , CM000678.1:g.88889097G>A	GRCh37
NC_000016.8:g.87416598G>A	NCBI36
NG_008667.1:g.39278C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1264C>T MANE Select	NP_000503.1:p.Gln422Ter
ENST00000268695.10:c.1264C>T MANE Select	ENSP00000268695.5:p.Gln422Ter
NM_000512.4:c.1264C>T	NP_000503.1:p.Gln422Ter
NM_001323543.1:c.709C>T	NP_001310472.1:p.Gln237Ter
NM_001323543.2:c.709C>T	NP_001310472.1:p.Gln237Ter
NM_001323544.1:c.1282C>T	NP_001310473.1:p.Gln428Ter
NM_001323544.2:c.1282C>T	NP_001310473.1:p.Gln428Ter
ENST00000268695.9:c.1264C>T	ENSP00000268695.5:p.Gln422Ter
ENST00000562593.5:n.4673C>T
ENST00000567525.5:c.945C>T	ENSP00000454484.1:n.945C>T
ENST00000568613.5:c.1383C>T	ENSP00000457921.1:n.1383C>T
XM_005256301.2:c.1264C>T	XP_005256358.1:p.Gln422Ter
XM_005256301.3:c.1264C>T	XP_005256358.1:p.Gln422Ter
XM_005256302.1:c.1282C>T	XP_005256359.1:p.Gln428Ter
XM_011522982.1:c.1282C>T	XP_011521284.1:p.Gln428Ter
XM_011522982.2:c.1282C>T	XP_011521284.1:p.Gln428Ter
XM_011522984.1:c.1282C>T	XP_011521286.1:p.Gln428Ter
XM_017023111.2:c.1282C>T	XP_016878600.1:p.Gln428Ter
XM_017023112.2:c.1282C>T	XP_016878601.1:p.Gln428Ter
XM_017023113.1:c.709C>T	XP_016878602.1:p.Gln237Ter