Canonical Allele Identifier: CA286432122

Gene: GALNS

Linked Data

• ClinVar Variation Id: 522756
• ClinVar RCV Id: RCV000625916
• dbSNP Id: rs948490589
• gnomAD v4: 16-88814506-C-T
• MyVariant Identifiers: chr16:g.88880914C>T (hg19) ; chr16:g.88814506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814506C>T , CM000678.2:g.88814506C>T	GRCh38
NC_000016.9:g.88880914C>T , CM000678.1:g.88880914C>T	GRCh37
NC_000016.8:g.87408415C>T	NCBI36
NG_008013.1:g.2429G>A
NG_008667.1:g.47461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1502G>A MANE Select	ENSP00000268695.5:p.Cys501Tyr
ENST00000268695.9:c.1502G>A	ENSP00000268695.5:p.Cys501Tyr
ENST00000562593.5:n.4911G>A
ENST00000567525.5:c.1183G>A	ENSP00000454484.1:n.1183G>A
ENST00000568613.5:c.1621G>A	ENSP00000457921.1:n.1621G>A
NM_000512.4:c.1502G>A	NP_000503.1:p.Cys501Tyr
XM_005256302.1:c.1520G>A	XP_005256359.1:p.Cys507Tyr
NM_001323543.1:c.947G>A	NP_001310472.1:p.Cys316Tyr
NM_001323544.1:c.1520G>A	NP_001310473.1:p.Cys507Tyr
XM_005256301.3:c.*2666G>A	XP_005256358.1:n.*2666G>A
XM_011522982.2:c.*2666G>A	XP_011521284.1:n.*2666G>A
XM_017023112.2:c.*2924G>A	XP_016878601.1:n.*2924G>A
XM_017023113.1:c.*2666G>A	XP_016878602.1:n.*2666G>A
NM_000512.5:c.1502G>A MANE Select	NP_000503.1:p.Cys501Tyr
NM_001323543.2:c.947G>A	NP_001310472.1:p.Cys316Tyr
NM_001323544.2:c.1520G>A	NP_001310473.1:p.Cys507Tyr