Canonical Allele Identifier: CA397076269

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1693686
• ClinVar RCV Id: RCV002261555
• dbSNP Id: rs1911999994
• gnomAD v4: 16-88835282-C-T
• MyVariant Identifiers: chr16:g.88901690C>T (hg19) ; chr16:g.88835282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835282C>T , CM000678.2:g.88835282C>T	GRCh38
NC_000016.9:g.88901690C>T , CM000678.1:g.88901690C>T	GRCh37
NC_000016.8:g.87429191C>T	NCBI36
NG_008667.1:g.26685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.829G>A MANE Select	ENSP00000268695.5:p.Val277Ile
ENST00000268695.9:c.829G>A	ENSP00000268695.5:p.Val277Ile
ENST00000562593.5:n.4238G>A
ENST00000562931.5:n.417G>A
ENST00000567525.5:c.510G>A	ENSP00000454484.1:n.510G>A
ENST00000568613.5:c.948G>A	ENSP00000457921.1:n.948G>A
NM_000512.4:c.829G>A	NP_000503.1:p.Val277Ile
XM_005256301.2:c.829G>A	XP_005256358.1:p.Val277Ile
XM_005256302.1:c.847G>A	XP_005256359.1:p.Val283Ile
XM_011522982.1:c.847G>A	XP_011521284.1:p.Val283Ile
XM_011522984.1:c.847G>A	XP_011521286.1:p.Val283Ile
NM_001323543.1:c.274G>A	NP_001310472.1:p.Val92Ile
NM_001323544.1:c.847G>A	NP_001310473.1:p.Val283Ile
XM_005256301.3:c.829G>A	XP_005256358.1:p.Val277Ile
XM_011522982.2:c.847G>A	XP_011521284.1:p.Val283Ile
XM_017023111.2:c.847G>A	XP_016878600.1:p.Val283Ile
XM_017023112.2:c.847G>A	XP_016878601.1:p.Val283Ile
XM_017023113.1:c.274G>A	XP_016878602.1:p.Val92Ile
NM_000512.5:c.829G>A MANE Select	NP_000503.1:p.Val277Ile
NM_001323543.2:c.274G>A	NP_001310472.1:p.Val92Ile
NM_001323544.2:c.847G>A	NP_001310473.1:p.Val283Ile