Canonical Allele Identifier: CA397097683

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88891252T>A (hg19) ; chr16:g.88824844T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824844T>A , CM000678.2:g.88824844T>A	GRCh38
NC_000016.9:g.88891252T>A , CM000678.1:g.88891252T>A	GRCh37
NC_000016.8:g.87418753T>A	NCBI36
NG_008667.1:g.37123A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1165A>T MANE Select	ENSP00000268695.5:p.Thr389Ser
ENST00000268695.9:c.1165A>T	ENSP00000268695.5:p.Thr389Ser
ENST00000562593.5:n.4574A>T
ENST00000564263.1:n.441A>T
ENST00000567525.5:c.846A>T	ENSP00000454484.1:n.846A>T
ENST00000568613.5:c.1284A>T	ENSP00000457921.1:n.1284A>T
NM_000512.4:c.1165A>T	NP_000503.1:p.Thr389Ser
XM_005256301.2:c.1165A>T	XP_005256358.1:p.Thr389Ser
XM_005256302.1:c.1183A>T	XP_005256359.1:p.Thr395Ser
XM_011522982.1:c.1183A>T	XP_011521284.1:p.Thr395Ser
XM_011522984.1:c.1183A>T	XP_011521286.1:p.Thr395Ser
NM_001323543.1:c.610A>T	NP_001310472.1:p.Thr204Ser
NM_001323544.1:c.1183A>T	NP_001310473.1:p.Thr395Ser
XM_005256301.3:c.1165A>T	XP_005256358.1:p.Thr389Ser
XM_011522982.2:c.1183A>T	XP_011521284.1:p.Thr395Ser
XM_017023111.2:c.1183A>T	XP_016878600.1:p.Thr395Ser
XM_017023112.2:c.1183A>T	XP_016878601.1:p.Thr395Ser
XM_017023113.1:c.610A>T	XP_016878602.1:p.Thr204Ser
NM_000512.5:c.1165A>T MANE Select	NP_000503.1:p.Thr389Ser
NM_001323543.2:c.610A>T	NP_001310472.1:p.Thr204Ser
NM_001323544.2:c.1183A>T	NP_001310473.1:p.Thr395Ser