Canonical Allele Identifier: CA397081219

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88902636T>A (hg19) ; chr16:g.88836228T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836228T>A , CM000678.2:g.88836228T>A	GRCh38
NC_000016.9:g.88902636T>A , CM000678.1:g.88902636T>A	GRCh37
NC_000016.8:g.87430137T>A	NCBI36
NG_008667.1:g.25739A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.606A>T MANE Select	ENSP00000268695.5:p.Glu202Asp
ENST00000268695.9:c.606A>T	ENSP00000268695.5:p.Glu202Asp
ENST00000562593.5:n.4015A>T
ENST00000562831.1:c.390A>T	ENSP00000455174.1:p.Glu130Asp
ENST00000562931.5:n.194A>T
ENST00000566563.1:n.308A>T
ENST00000567525.5:c.287A>T	ENSP00000454484.1:n.287A>T
ENST00000568613.5:c.725A>T	ENSP00000457921.1:n.725A>T
NM_000512.4:c.606A>T	NP_000503.1:p.Glu202Asp
XM_005256301.2:c.606A>T	XP_005256358.1:p.Glu202Asp
XM_005256302.1:c.624A>T	XP_005256359.1:p.Glu208Asp
XM_011522982.1:c.624A>T	XP_011521284.1:p.Glu208Asp
XM_011522984.1:c.624A>T	XP_011521286.1:p.Glu208Asp
NM_001323543.1:c.51A>T	NP_001310472.1:p.Glu17Asp
NM_001323544.1:c.624A>T	NP_001310473.1:p.Glu208Asp
XM_005256301.3:c.606A>T	XP_005256358.1:p.Glu202Asp
XM_011522982.2:c.624A>T	XP_011521284.1:p.Glu208Asp
XM_017023111.2:c.624A>T	XP_016878600.1:p.Glu208Asp
XM_017023112.2:c.624A>T	XP_016878601.1:p.Glu208Asp
XM_017023113.1:c.51A>T	XP_016878602.1:p.Glu17Asp
NM_000512.5:c.606A>T MANE Select	NP_000503.1:p.Glu202Asp
NM_001323543.2:c.51A>T	NP_001310472.1:p.Glu17Asp
NM_001323544.2:c.624A>T	NP_001310473.1:p.Glu208Asp