Canonical Allele Identifier: CA397076050

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048425
• ClinVar RCV Id: RCV001578527 ; RCV003399149
• dbSNP Id: rs1314520034
• gnomAD v4: 16-88835246-T-C
• MyVariant Identifiers: chr16:g.88901654T>C (hg19) ; chr16:g.88835246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835246T>C , CM000678.2:g.88835246T>C	GRCh38
NC_000016.9:g.88901654T>C , CM000678.1:g.88901654T>C	GRCh37
NC_000016.8:g.87429155T>C	NCBI36
NG_008667.1:g.26721A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.865A>G MANE Select	ENSP00000268695.5:p.Asn289Asp
ENST00000268695.9:c.865A>G	ENSP00000268695.5:p.Asn289Asp
ENST00000562593.5:n.4274A>G
ENST00000562931.5:n.453A>G
ENST00000567525.5:c.546A>G	ENSP00000454484.1:n.546A>G
ENST00000568613.5:c.984A>G	ENSP00000457921.1:n.984A>G
NM_000512.4:c.865A>G	NP_000503.1:p.Asn289Asp
XM_005256301.2:c.865A>G	XP_005256358.1:p.Asn289Asp
XM_005256302.1:c.883A>G	XP_005256359.1:p.Asn295Asp
XM_011522982.1:c.883A>G	XP_011521284.1:p.Asn295Asp
XM_011522984.1:c.883A>G	XP_011521286.1:p.Asn295Asp
NM_001323543.1:c.310A>G	NP_001310472.1:p.Asn104Asp
NM_001323544.1:c.883A>G	NP_001310473.1:p.Asn295Asp
XM_005256301.3:c.865A>G	XP_005256358.1:p.Asn289Asp
XM_011522982.2:c.883A>G	XP_011521284.1:p.Asn295Asp
XM_017023111.2:c.883A>G	XP_016878600.1:p.Asn295Asp
XM_017023112.2:c.883A>G	XP_016878601.1:p.Asn295Asp
XM_017023113.1:c.310A>G	XP_016878602.1:p.Asn104Asp
NM_000512.5:c.865A>G MANE Select	NP_000503.1:p.Asn289Asp
NM_001323543.2:c.310A>G	NP_001310472.1:p.Asn104Asp
NM_001323544.2:c.883A>G	NP_001310473.1:p.Asn295Asp