Canonical Allele Identifier: CA397092656

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814510C>A , CM000678.2:g.88814510C>A	GRCh38
NC_000016.9:g.88880918C>A , CM000678.1:g.88880918C>A	GRCh37
NC_000016.8:g.87408419C>A	NCBI36
NG_008013.1:g.2425G>T
NG_008667.1:g.47457G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1498G>T MANE Select	NP_000503.1:p.Gly500Cys
ENST00000268695.10:c.1498G>T MANE Select	ENSP00000268695.5:p.Gly500Cys
NM_000512.4:c.1498G>T	NP_000503.1:p.Gly500Cys
NM_001323543.1:c.943G>T	NP_001310472.1:p.Gly315Cys
NM_001323543.2:c.943G>T	NP_001310472.1:p.Gly315Cys
NM_001323544.1:c.1516G>T	NP_001310473.1:p.Gly506Cys
NM_001323544.2:c.1516G>T	NP_001310473.1:p.Gly506Cys
ENST00000268695.9:c.1498G>T	ENSP00000268695.5:p.Gly500Cys
ENST00000562593.5:n.4907G>T
ENST00000567525.5:c.1179G>T	ENSP00000454484.1:n.1179G>T
ENST00000568613.5:c.1617G>T	ENSP00000457921.1:n.1617G>T
XM_005256301.3:c.*2662G>T	XP_005256358.1:n.*2662G>T
XM_005256302.1:c.1516G>T	XP_005256359.1:p.Gly506Cys
XM_011522982.2:c.*2662G>T	XP_011521284.1:n.*2662G>T
XM_017023112.2:c.*2920G>T	XP_016878601.1:n.*2920G>T
XM_017023113.1:c.*2662G>T	XP_016878602.1:n.*2662G>T