Canonical Allele Identifier: CA397094435

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818074A>T , CM000678.2:g.88818074A>T	GRCh38
NC_000016.9:g.88884482A>T , CM000678.1:g.88884482A>T	GRCh37
NC_000016.8:g.87411983A>T	NCBI36
NG_008667.1:g.43893T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1415T>A MANE Select	NP_000503.1:p.Val472Asp
ENST00000268695.10:c.1415T>A MANE Select	ENSP00000268695.5:p.Val472Asp
NM_000512.4:c.1415T>A	NP_000503.1:p.Val472Asp
NM_001323543.1:c.860T>A	NP_001310472.1:p.Val287Asp
NM_001323543.2:c.860T>A	NP_001310472.1:p.Val287Asp
NM_001323544.1:c.1433T>A	NP_001310473.1:p.Val478Asp
NM_001323544.2:c.1433T>A	NP_001310473.1:p.Val478Asp
ENST00000268695.9:c.1415T>A	ENSP00000268695.5:p.Val472Asp
ENST00000562593.5:n.4824T>A
ENST00000567525.5:c.1096T>A	ENSP00000454484.1:n.1096T>A
ENST00000568613.5:c.1534T>A	ENSP00000457921.1:n.1534T>A
XM_005256301.2:c.1415T>A	XP_005256358.1:p.Val472Asp
XM_005256301.3:c.1415T>A	XP_005256358.1:p.Val472Asp
XM_005256302.1:c.1433T>A	XP_005256359.1:p.Val478Asp
XM_011522982.1:c.1433T>A	XP_011521284.1:p.Val478Asp
XM_011522982.2:c.1433T>A	XP_011521284.1:p.Val478Asp
XM_011522984.1:c.1433T>A	XP_011521286.1:p.Val478Asp
XM_017023111.2:c.1433T>A	XP_016878600.1:p.Val478Asp
XM_017023112.2:c.1433T>A	XP_016878601.1:p.Val478Asp
XM_017023113.1:c.860T>A	XP_016878602.1:p.Val287Asp