Canonical Allele Identifier: CA397076115

Gene: GALNS

Linked Data

• ClinVar Variation Id: 2840507
• ClinVar RCV Id: RCV003599563
• MyVariant Identifiers: chr16:g.88901668A>C (hg19) ; chr16:g.88835260A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835260A>C , CM000678.2:g.88835260A>C	GRCh38
NC_000016.9:g.88901668A>C , CM000678.1:g.88901668A>C	GRCh37
NC_000016.8:g.87429169A>C	NCBI36
NG_008667.1:g.26707T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.851T>G MANE Select	ENSP00000268695.5:p.Phe284Cys
ENST00000268695.9:c.851T>G	ENSP00000268695.5:p.Phe284Cys
ENST00000562593.5:n.4260T>G
ENST00000562931.5:n.439T>G
ENST00000567525.5:c.532T>G	ENSP00000454484.1:n.532T>G
ENST00000568613.5:c.970T>G	ENSP00000457921.1:n.970T>G
NM_000512.4:c.851T>G	NP_000503.1:p.Phe284Cys
XM_005256301.2:c.851T>G	XP_005256358.1:p.Phe284Cys
XM_005256302.1:c.869T>G	XP_005256359.1:p.Phe290Cys
XM_011522982.1:c.869T>G	XP_011521284.1:p.Phe290Cys
XM_011522984.1:c.869T>G	XP_011521286.1:p.Phe290Cys
NM_001323543.1:c.296T>G	NP_001310472.1:p.Phe99Cys
NM_001323544.1:c.869T>G	NP_001310473.1:p.Phe290Cys
XM_005256301.3:c.851T>G	XP_005256358.1:p.Phe284Cys
XM_011522982.2:c.869T>G	XP_011521284.1:p.Phe290Cys
XM_017023111.2:c.869T>G	XP_016878600.1:p.Phe290Cys
XM_017023112.2:c.869T>G	XP_016878601.1:p.Phe290Cys
XM_017023113.1:c.296T>G	XP_016878602.1:p.Phe99Cys
NM_000512.5:c.851T>G MANE Select	NP_000503.1:p.Phe284Cys
NM_001323543.2:c.296T>G	NP_001310472.1:p.Phe99Cys
NM_001323544.2:c.869T>G	NP_001310473.1:p.Phe290Cys