Canonical Allele Identifier: CA397101073

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88832022C>T , CM000678.2:g.88832022C>T	GRCh38
NC_000016.9:g.88898430C>T , CM000678.1:g.88898430C>T	GRCh37
NC_000016.8:g.87425931C>T	NCBI36
NG_008667.1:g.29945G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.978G>A MANE Select	NP_000503.1:p.Trp326Ter
ENST00000268695.10:c.978G>A MANE Select	ENSP00000268695.5:p.Trp326Ter
NM_000512.4:c.978G>A	NP_000503.1:p.Trp326Ter
NM_001323543.1:c.423G>A	NP_001310472.1:p.Trp141Ter
NM_001323543.2:c.423G>A	NP_001310472.1:p.Trp141Ter
NM_001323544.1:c.996G>A	NP_001310473.1:p.Trp332Ter
NM_001323544.2:c.996G>A	NP_001310473.1:p.Trp332Ter
ENST00000268695.9:c.978G>A	ENSP00000268695.5:p.Trp326Ter
ENST00000562593.5:n.4387G>A
ENST00000567525.5:c.659G>A	ENSP00000454484.1:n.659G>A
ENST00000568613.5:c.1097G>A	ENSP00000457921.1:n.1097G>A
XM_005256301.2:c.978G>A	XP_005256358.1:p.Trp326Ter
XM_005256301.3:c.978G>A	XP_005256358.1:p.Trp326Ter
XM_005256302.1:c.996G>A	XP_005256359.1:p.Trp332Ter
XM_011522982.1:c.996G>A	XP_011521284.1:p.Trp332Ter
XM_011522982.2:c.996G>A	XP_011521284.1:p.Trp332Ter
XM_011522984.1:c.996G>A	XP_011521286.1:p.Trp332Ter
XM_017023111.2:c.996G>A	XP_016878600.1:p.Trp332Ter
XM_017023112.2:c.996G>A	XP_016878601.1:p.Trp332Ter
XM_017023113.1:c.423G>A	XP_016878602.1:p.Trp141Ter