Canonical Allele Identifier: CA397101212

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88832050C>T , CM000678.2:g.88832050C>T	GRCh38
NC_000016.9:g.88898458C>T , CM000678.1:g.88898458C>T	GRCh37
NC_000016.8:g.87425959C>T	NCBI36
NG_008667.1:g.29917G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.950G>A MANE Select	NP_000503.1:p.Gly317Glu
ENST00000268695.10:c.950G>A MANE Select	ENSP00000268695.5:p.Gly317Glu
NM_000512.4:c.950G>A	NP_000503.1:p.Gly317Glu
NM_001323543.1:c.395G>A	NP_001310472.1:p.Gly132Glu
NM_001323543.2:c.395G>A	NP_001310472.1:p.Gly132Glu
NM_001323544.1:c.968G>A	NP_001310473.1:p.Gly323Glu
NM_001323544.2:c.968G>A	NP_001310473.1:p.Gly323Glu
ENST00000268695.9:c.950G>A	ENSP00000268695.5:p.Gly317Glu
ENST00000562593.5:n.4359G>A
ENST00000562931.5:n.538G>A
ENST00000567525.5:c.631G>A	ENSP00000454484.1:n.631G>A
ENST00000568613.5:c.1069G>A	ENSP00000457921.1:n.1069G>A
XM_005256301.2:c.950G>A	XP_005256358.1:p.Gly317Glu
XM_005256301.3:c.950G>A	XP_005256358.1:p.Gly317Glu
XM_005256302.1:c.968G>A	XP_005256359.1:p.Gly323Glu
XM_011522982.1:c.968G>A	XP_011521284.1:p.Gly323Glu
XM_011522982.2:c.968G>A	XP_011521284.1:p.Gly323Glu
XM_011522984.1:c.968G>A	XP_011521286.1:p.Gly323Glu
XM_017023111.2:c.968G>A	XP_016878600.1:p.Gly323Glu
XM_017023112.2:c.968G>A	XP_016878601.1:p.Gly323Glu
XM_017023113.1:c.395G>A	XP_016878602.1:p.Gly132Glu