Canonical Allele Identifier: CA397098186

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88893131A>T (hg19) ; chr16:g.88826723A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826723A>T , CM000678.2:g.88826723A>T	GRCh38
NC_000016.9:g.88893131A>T , CM000678.1:g.88893131A>T	GRCh37
NC_000016.8:g.87420632A>T	NCBI36
NG_008667.1:g.35244T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1118T>A MANE Select	ENSP00000268695.5:p.Leu373Gln
ENST00000268695.9:c.1118T>A	ENSP00000268695.5:p.Leu373Gln
ENST00000562593.5:n.4527T>A
ENST00000564263.1:n.394T>A
ENST00000567525.5:c.799T>A	ENSP00000454484.1:n.799T>A
ENST00000568613.5:c.1237T>A	ENSP00000457921.1:n.1237T>A
NM_000512.4:c.1118T>A	NP_000503.1:p.Leu373Gln
XM_005256301.2:c.1118T>A	XP_005256358.1:p.Leu373Gln
XM_005256302.1:c.1136T>A	XP_005256359.1:p.Leu379Gln
XM_011522982.1:c.1136T>A	XP_011521284.1:p.Leu379Gln
XM_011522984.1:c.1136T>A	XP_011521286.1:p.Leu379Gln
NM_001323543.1:c.563T>A	NP_001310472.1:p.Leu188Gln
NM_001323544.1:c.1136T>A	NP_001310473.1:p.Leu379Gln
XM_005256301.3:c.1118T>A	XP_005256358.1:p.Leu373Gln
XM_011522982.2:c.1136T>A	XP_011521284.1:p.Leu379Gln
XM_017023111.2:c.1136T>A	XP_016878600.1:p.Leu379Gln
XM_017023112.2:c.1136T>A	XP_016878601.1:p.Leu379Gln
XM_017023113.1:c.563T>A	XP_016878602.1:p.Leu188Gln
NM_000512.5:c.1118T>A MANE Select	NP_000503.1:p.Leu373Gln
NM_001323543.2:c.563T>A	NP_001310472.1:p.Leu188Gln
NM_001323544.2:c.1136T>A	NP_001310473.1:p.Leu379Gln