Canonical Allele Identifier: CA397082717

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837641C>A , CM000678.2:g.88837641C>A	GRCh38
NC_000016.9:g.88904049C>A , CM000678.1:g.88904049C>A	GRCh37
NC_000016.8:g.87431550C>A	NCBI36
NG_008667.1:g.24326G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.547G>T MANE Select	NP_000503.1:p.Asp183Tyr
ENST00000268695.10:c.547G>T MANE Select	ENSP00000268695.5:p.Asp183Tyr
NM_000512.4:c.547G>T	NP_000503.1:p.Asp183Tyr
NM_001323543.1:c.-9G>T	NP_001310472.1:n.-9G>T
NM_001323543.2:c.-9G>T	NP_001310472.1:n.-9G>T
NM_001323544.1:c.565G>T	NP_001310473.1:p.Asp189Tyr
NM_001323544.2:c.565G>T	NP_001310473.1:p.Asp189Tyr
ENST00000268695.9:c.547G>T	ENSP00000268695.5:p.Asp183Tyr
ENST00000561812.1:n.503G>T
ENST00000562593.5:n.3956G>T
ENST00000562831.1:c.331G>T	ENSP00000455174.1:p.Asp111Tyr
ENST00000562931.5:n.135G>T
ENST00000566563.1:n.249G>T
ENST00000567525.5:c.248-1374G>T	ENSP00000454484.1:n.248-1374G>T
ENST00000568613.5:c.666G>T	ENSP00000457921.1:n.666G>T
XM_005256301.2:c.547G>T	XP_005256358.1:p.Asp183Tyr
XM_005256301.3:c.547G>T	XP_005256358.1:p.Asp183Tyr
XM_005256302.1:c.565G>T	XP_005256359.1:p.Asp189Tyr
XM_011522982.1:c.565G>T	XP_011521284.1:p.Asp189Tyr
XM_011522982.2:c.565G>T	XP_011521284.1:p.Asp189Tyr
XM_011522984.1:c.565G>T	XP_011521286.1:p.Asp189Tyr
XM_017023111.2:c.565G>T	XP_016878600.1:p.Asp189Tyr
XM_017023112.2:c.565G>T	XP_016878601.1:p.Asp189Tyr
XM_017023113.1:c.-9G>T	XP_016878602.1:n.-9G>T