Canonical Allele Identifier: CA16607530

Gene: GALNS

Linked Data

• ClinVar Variation Id: 379921
• ClinVar RCV Id: RCV000420010 ; RCV001578578 ; RCV004526672
• dbSNP Id: rs118204448
• MyVariant Identifiers: chr16:g.88901648C>A (hg19) ; chr16:g.88835240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835240C>A , CM000678.2:g.88835240C>A	GRCh38
NC_000016.9:g.88901648C>A , CM000678.1:g.88901648C>A	GRCh37
NC_000016.8:g.87429149C>A	NCBI36
NG_008667.1:g.26727G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.871G>T MANE Select	ENSP00000268695.5:p.Ala291Ser
ENST00000268695.9:c.871G>T	ENSP00000268695.5:p.Ala291Ser
ENST00000562593.5:n.4280G>T
ENST00000562931.5:n.459G>T
ENST00000567525.5:c.552G>T	ENSP00000454484.1:n.552G>T
ENST00000568613.5:c.990G>T	ENSP00000457921.1:n.990G>T
NM_000512.4:c.871G>T	NP_000503.1:p.Ala291Ser
XM_005256301.2:c.871G>T	XP_005256358.1:p.Ala291Ser
XM_005256302.1:c.889G>T	XP_005256359.1:p.Ala297Ser
XM_011522982.1:c.889G>T	XP_011521284.1:p.Ala297Ser
XM_011522984.1:c.889G>T	XP_011521286.1:p.Ala297Ser
NM_001323543.1:c.316G>T	NP_001310472.1:p.Ala106Ser
NM_001323544.1:c.889G>T	NP_001310473.1:p.Ala297Ser
XM_005256301.3:c.871G>T	XP_005256358.1:p.Ala291Ser
XM_011522982.2:c.889G>T	XP_011521284.1:p.Ala297Ser
XM_017023111.2:c.889G>T	XP_016878600.1:p.Ala297Ser
XM_017023112.2:c.889G>T	XP_016878601.1:p.Ala297Ser
XM_017023113.1:c.316G>T	XP_016878602.1:p.Ala106Ser
NM_000512.5:c.871G>T MANE Select	NP_000503.1:p.Ala291Ser
NM_001323543.2:c.316G>T	NP_001310472.1:p.Ala106Ser
NM_001323544.2:c.889G>T	NP_001310473.1:p.Ala297Ser