Canonical Allele Identifier: CA397097688

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88891254T>A (hg19) ; chr16:g.88824846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824846T>A , CM000678.2:g.88824846T>A	GRCh38
NC_000016.9:g.88891254T>A , CM000678.1:g.88891254T>A	GRCh37
NC_000016.8:g.87418755T>A	NCBI36
NG_008667.1:g.37121A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1163A>T MANE Select	ENSP00000268695.5:p.Asp388Val
ENST00000268695.9:c.1163A>T	ENSP00000268695.5:p.Asp388Val
ENST00000562593.5:n.4572A>T
ENST00000564263.1:n.439A>T
ENST00000567525.5:c.844A>T	ENSP00000454484.1:n.844A>T
ENST00000568613.5:c.1282A>T	ENSP00000457921.1:n.1282A>T
NM_000512.4:c.1163A>T	NP_000503.1:p.Asp388Val
XM_005256301.2:c.1163A>T	XP_005256358.1:p.Asp388Val
XM_005256302.1:c.1181A>T	XP_005256359.1:p.Asp394Val
XM_011522982.1:c.1181A>T	XP_011521284.1:p.Asp394Val
XM_011522984.1:c.1181A>T	XP_011521286.1:p.Asp394Val
NM_001323543.1:c.608A>T	NP_001310472.1:p.Asp203Val
NM_001323544.1:c.1181A>T	NP_001310473.1:p.Asp394Val
XM_005256301.3:c.1163A>T	XP_005256358.1:p.Asp388Val
XM_011522982.2:c.1181A>T	XP_011521284.1:p.Asp394Val
XM_017023111.2:c.1181A>T	XP_016878600.1:p.Asp394Val
XM_017023112.2:c.1181A>T	XP_016878601.1:p.Asp394Val
XM_017023113.1:c.608A>T	XP_016878602.1:p.Asp203Val
NM_000512.5:c.1163A>T MANE Select	NP_000503.1:p.Asp388Val
NM_001323543.2:c.608A>T	NP_001310472.1:p.Asp203Val
NM_001323544.2:c.1181A>T	NP_001310473.1:p.Asp394Val