Canonical Allele Identifier: CA397092708

Gene: GALNS

Linked Data

• gnomAD v4: 16-88814523-G-T
• MyVariant Identifiers: chr16:g.88880931G>T (hg19) ; chr16:g.88814523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814523G>T , CM000678.2:g.88814523G>T	GRCh38
NC_000016.9:g.88880931G>T , CM000678.1:g.88880931G>T	GRCh37
NC_000016.8:g.87408432G>T	NCBI36
NG_008013.1:g.2412C>A
NG_008667.1:g.47444C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1485C>A MANE Select	ENSP00000268695.5:p.Asn495Lys
ENST00000268695.9:c.1485C>A	ENSP00000268695.5:p.Asn495Lys
ENST00000562593.5:n.4894C>A
ENST00000567525.5:c.1166C>A	ENSP00000454484.1:n.1166C>A
ENST00000568613.5:c.1604C>A	ENSP00000457921.1:n.1604C>A
NM_000512.4:c.1485C>A	NP_000503.1:p.Asn495Lys
XM_005256302.1:c.1503C>A	XP_005256359.1:p.Asn501Lys
NM_001323543.1:c.930C>A	NP_001310472.1:p.Asn310Lys
NM_001323544.1:c.1503C>A	NP_001310473.1:p.Asn501Lys
XM_005256301.3:c.*2649C>A	XP_005256358.1:n.*2649C>A
XM_011522982.2:c.*2649C>A	XP_011521284.1:n.*2649C>A
XM_017023112.2:c.*2907C>A	XP_016878601.1:n.*2907C>A
XM_017023113.1:c.*2649C>A	XP_016878602.1:n.*2649C>A
NM_000512.5:c.1485C>A MANE Select	NP_000503.1:p.Asn495Lys
NM_001323543.2:c.930C>A	NP_001310472.1:p.Asn310Lys
NM_001323544.2:c.1503C>A	NP_001310473.1:p.Asn501Lys