Canonical Allele Identifier: CA397097681

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88891251G>T (hg19) ; chr16:g.88824843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824843G>T , CM000678.2:g.88824843G>T	GRCh38
NC_000016.9:g.88891251G>T , CM000678.1:g.88891251G>T	GRCh37
NC_000016.8:g.87418752G>T	NCBI36
NG_008667.1:g.37124C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1166C>A MANE Select	ENSP00000268695.5:p.Thr389Lys
ENST00000268695.9:c.1166C>A	ENSP00000268695.5:p.Thr389Lys
ENST00000562593.5:n.4575C>A
ENST00000564263.1:n.442C>A
ENST00000567525.5:c.847C>A	ENSP00000454484.1:n.847C>A
ENST00000568613.5:c.1285C>A	ENSP00000457921.1:n.1285C>A
NM_000512.4:c.1166C>A	NP_000503.1:p.Thr389Lys
XM_005256301.2:c.1166C>A	XP_005256358.1:p.Thr389Lys
XM_005256302.1:c.1184C>A	XP_005256359.1:p.Thr395Lys
XM_011522982.1:c.1184C>A	XP_011521284.1:p.Thr395Lys
XM_011522984.1:c.1184C>A	XP_011521286.1:p.Thr395Lys
NM_001323543.1:c.611C>A	NP_001310472.1:p.Thr204Lys
NM_001323544.1:c.1184C>A	NP_001310473.1:p.Thr395Lys
XM_005256301.3:c.1166C>A	XP_005256358.1:p.Thr389Lys
XM_011522982.2:c.1184C>A	XP_011521284.1:p.Thr395Lys
XM_017023111.2:c.1184C>A	XP_016878600.1:p.Thr395Lys
XM_017023112.2:c.1184C>A	XP_016878601.1:p.Thr395Lys
XM_017023113.1:c.611C>A	XP_016878602.1:p.Thr204Lys
NM_000512.5:c.1166C>A MANE Select	NP_000503.1:p.Thr389Lys
NM_001323543.2:c.611C>A	NP_001310472.1:p.Thr204Lys
NM_001323544.2:c.1184C>A	NP_001310473.1:p.Thr395Lys