Canonical Allele Identifier: CA397075964

Gene: GALNS

Linked Data

• ClinVar Variation Id: 2266185
• ClinVar RCV Id: RCV002793716
• gnomAD v4: 16-88835231-T-C
• MyVariant Identifiers: chr16:g.88901639T>C (hg19) ; chr16:g.88835231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835231T>C , CM000678.2:g.88835231T>C	GRCh38
NC_000016.9:g.88901639T>C , CM000678.1:g.88901639T>C	GRCh37
NC_000016.8:g.87429140T>C	NCBI36
NG_008667.1:g.26736A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.880A>G MANE Select	ENSP00000268695.5:p.Ile294Val
ENST00000268695.9:c.880A>G	ENSP00000268695.5:p.Ile294Val
ENST00000562593.5:n.4289A>G
ENST00000562931.5:n.468A>G
ENST00000567525.5:c.561A>G	ENSP00000454484.1:n.561A>G
ENST00000568613.5:c.999A>G	ENSP00000457921.1:n.999A>G
NM_000512.4:c.880A>G	NP_000503.1:p.Ile294Val
XM_005256301.2:c.880A>G	XP_005256358.1:p.Ile294Val
XM_005256302.1:c.898A>G	XP_005256359.1:p.Ile300Val
XM_011522982.1:c.898A>G	XP_011521284.1:p.Ile300Val
XM_011522984.1:c.898A>G	XP_011521286.1:p.Ile300Val
NM_001323543.1:c.325A>G	NP_001310472.1:p.Ile109Val
NM_001323544.1:c.898A>G	NP_001310473.1:p.Ile300Val
XM_005256301.3:c.880A>G	XP_005256358.1:p.Ile294Val
XM_011522982.2:c.898A>G	XP_011521284.1:p.Ile300Val
XM_017023111.2:c.898A>G	XP_016878600.1:p.Ile300Val
XM_017023112.2:c.898A>G	XP_016878601.1:p.Ile300Val
XM_017023113.1:c.325A>G	XP_016878602.1:p.Ile109Val
NM_000512.5:c.880A>G MANE Select	NP_000503.1:p.Ile294Val
NM_001323543.2:c.325A>G	NP_001310472.1:p.Ile109Val
NM_001323544.2:c.898A>G	NP_001310473.1:p.Ile300Val