Canonical Allele Identifier: CA2499223750

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048434
• ClinVar RCV Id: RCV001578536
• dbSNP Id: rs2142995881

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826833del , CM000678.2:g.88826833del	GRCh38
NC_000016.9:g.88893241del , CM000678.1:g.88893241del	GRCh37
NC_000016.8:g.87420742del	NCBI36
NG_008667.1:g.35135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1009del MANE Select	ENSP00000268695.5:p.His337ThrfsTer19
ENST00000268695.9:c.1009del	ENSP00000268695.5:p.His337ThrfsTer19
ENST00000562593.5:n.4418del
ENST00000564263.1:n.285del
ENST00000567525.5:c.690del	ENSP00000454484.1:n.690del
ENST00000568613.5:c.1128del	ENSP00000457921.1:n.1128del
NM_000512.4:c.1009del	NP_000503.1:p.His337ThrfsTer19
XM_005256301.2:c.1009del	XP_005256358.1:p.His337ThrfsTer19
XM_005256302.1:c.1027del	XP_005256359.1:p.His343ThrfsTer19
XM_011522982.1:c.1027del	XP_011521284.1:p.His343ThrfsTer19
XM_011522984.1:c.1027del	XP_011521286.1:p.His343ThrfsTer19
NM_001323543.1:c.454del	NP_001310472.1:p.His152ThrfsTer19
NM_001323544.1:c.1027del	NP_001310473.1:p.His343ThrfsTer19
XM_005256301.3:c.1009del	XP_005256358.1:p.His337ThrfsTer19
XM_011522982.2:c.1027del	XP_011521284.1:p.His343ThrfsTer19
XM_017023111.2:c.1027del	XP_016878600.1:p.His343ThrfsTer19
XM_017023112.2:c.1027del	XP_016878601.1:p.His343ThrfsTer19
XM_017023113.1:c.454del	XP_016878602.1:p.His152ThrfsTer19
NM_000512.5:c.1009del MANE Select	NP_000503.1:p.His337ThrfsTer19
NM_001323543.2:c.454del	NP_001310472.1:p.His152ThrfsTer19
NM_001323544.2:c.1027del	NP_001310473.1:p.His343ThrfsTer19