Canonical Allele Identifier: CA221045

Gene: GALNS

Linked Data

• ClinVar Variation Id: 93166
• ClinVar RCV Id: RCV000079024 ; RCV001578612
• dbSNP Id: rs398123432
• gnomAD v4: 16-88822599-A-T
• MyVariant Identifiers: chr16:g.88889007A>T (hg19) ; chr16:g.88822599A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88822599A>T , CM000678.2:g.88822599A>T	GRCh38
NC_000016.9:g.88889007A>T , CM000678.1:g.88889007A>T	GRCh37
NC_000016.8:g.87416508A>T	NCBI36
NG_008667.1:g.39368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1354T>A MANE Select	ENSP00000268695.5:p.Phe452Ile
ENST00000268695.9:c.1354T>A	ENSP00000268695.5:p.Phe452Ile
ENST00000562593.5:n.4763T>A
ENST00000567525.5:c.1035T>A	ENSP00000454484.1:n.1035T>A
ENST00000568613.5:c.1473T>A	ENSP00000457921.1:n.1473T>A
NM_000512.4:c.1354T>A	NP_000503.1:p.Phe452Ile
XM_005256301.2:c.1354T>A	XP_005256358.1:p.Phe452Ile
XM_005256302.1:c.1372T>A	XP_005256359.1:p.Phe458Ile
XM_011522982.1:c.1372T>A	XP_011521284.1:p.Phe458Ile
XM_011522984.1:c.1372T>A	XP_011521286.1:p.Phe458Ile
NM_001323543.1:c.799T>A	NP_001310472.1:p.Phe267Ile
NM_001323544.1:c.1372T>A	NP_001310473.1:p.Phe458Ile
XM_005256301.3:c.1354T>A	XP_005256358.1:p.Phe452Ile
XM_011522982.2:c.1372T>A	XP_011521284.1:p.Phe458Ile
XM_017023111.2:c.1372T>A	XP_016878600.1:p.Phe458Ile
XM_017023112.2:c.1372T>A	XP_016878601.1:p.Phe458Ile
XM_017023113.1:c.799T>A	XP_016878602.1:p.Phe267Ile
NM_000512.5:c.1354T>A MANE Select	NP_000503.1:p.Phe452Ile
NM_001323543.2:c.799T>A	NP_001310472.1:p.Phe267Ile
NM_001323544.2:c.1372T>A	NP_001310473.1:p.Phe458Ile