Canonical Allele Identifier: CA397081236

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88902638C>A (hg19) ; chr16:g.88836230C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836230C>A , CM000678.2:g.88836230C>A	GRCh38
NC_000016.9:g.88902638C>A , CM000678.1:g.88902638C>A	GRCh37
NC_000016.8:g.87430139C>A	NCBI36
NG_008667.1:g.25737G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.604G>T MANE Select	ENSP00000268695.5:p.Glu202Ter
ENST00000268695.9:c.604G>T	ENSP00000268695.5:p.Glu202Ter
ENST00000562593.5:n.4013G>T
ENST00000562831.1:c.388G>T	ENSP00000455174.1:p.Glu130Ter
ENST00000562931.5:n.192G>T
ENST00000566563.1:n.306G>T
ENST00000567525.5:c.285G>T	ENSP00000454484.1:n.285G>T
ENST00000568613.5:c.723G>T	ENSP00000457921.1:n.723G>T
NM_000512.4:c.604G>T	NP_000503.1:p.Glu202Ter
XM_005256301.2:c.604G>T	XP_005256358.1:p.Glu202Ter
XM_005256302.1:c.622G>T	XP_005256359.1:p.Glu208Ter
XM_011522982.1:c.622G>T	XP_011521284.1:p.Glu208Ter
XM_011522984.1:c.622G>T	XP_011521286.1:p.Glu208Ter
NM_001323543.1:c.49G>T	NP_001310472.1:p.Glu17Ter
NM_001323544.1:c.622G>T	NP_001310473.1:p.Glu208Ter
XM_005256301.3:c.604G>T	XP_005256358.1:p.Glu202Ter
XM_011522982.2:c.622G>T	XP_011521284.1:p.Glu208Ter
XM_017023111.2:c.622G>T	XP_016878600.1:p.Glu208Ter
XM_017023112.2:c.622G>T	XP_016878601.1:p.Glu208Ter
XM_017023113.1:c.49G>T	XP_016878602.1:p.Glu17Ter
NM_000512.5:c.604G>T MANE Select	NP_000503.1:p.Glu202Ter
NM_001323543.2:c.49G>T	NP_001310472.1:p.Glu17Ter
NM_001323544.2:c.622G>T	NP_001310473.1:p.Glu208Ter