Canonical Allele Identifier: CA397092670

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814515G>A , CM000678.2:g.88814515G>A	GRCh38
NC_000016.9:g.88880923G>A , CM000678.1:g.88880923G>A	GRCh37
NC_000016.8:g.87408424G>A	NCBI36
NG_008013.1:g.2420C>T
NG_008667.1:g.47452C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1493C>T MANE Select	NP_000503.1:p.Pro498Leu
ENST00000268695.10:c.1493C>T MANE Select	ENSP00000268695.5:p.Pro498Leu
NM_000512.4:c.1493C>T	NP_000503.1:p.Pro498Leu
NM_001323543.1:c.938C>T	NP_001310472.1:p.Pro313Leu
NM_001323543.2:c.938C>T	NP_001310472.1:p.Pro313Leu
NM_001323544.1:c.1511C>T	NP_001310473.1:p.Pro504Leu
NM_001323544.2:c.1511C>T	NP_001310473.1:p.Pro504Leu
ENST00000268695.9:c.1493C>T	ENSP00000268695.5:p.Pro498Leu
ENST00000562593.5:n.4902C>T
ENST00000567525.5:c.1174C>T	ENSP00000454484.1:n.1174C>T
ENST00000568613.5:c.1612C>T	ENSP00000457921.1:n.1612C>T
XM_005256301.3:c.*2657C>T	XP_005256358.1:n.*2657C>T
XM_005256302.1:c.1511C>T	XP_005256359.1:p.Pro504Leu
XM_011522982.2:c.*2657C>T	XP_011521284.1:n.*2657C>T
XM_017023112.2:c.*2915C>T	XP_016878601.1:n.*2915C>T
XM_017023113.1:c.*2657C>T	XP_016878602.1:n.*2657C>T