Canonical Allele Identifier: CA397089323

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841951C>G , CM000678.2:g.88841951C>G	GRCh38
NC_000016.9:g.88908359C>G , CM000678.1:g.88908359C>G	GRCh37
NC_000016.8:g.87435860C>G	NCBI36
NG_008667.1:g.20016G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.265G>C MANE Select	NP_000503.1:p.Gly89Arg
ENST00000268695.10:c.265G>C MANE Select	ENSP00000268695.5:p.Gly89Arg
NM_000512.4:c.265G>C	NP_000503.1:p.Gly89Arg
NM_001323543.1:c.-291G>C	NP_001310472.1:n.-291G>C
NM_001323543.2:c.-291G>C	NP_001310472.1:n.-291G>C
NM_001323544.1:c.283G>C	NP_001310473.1:p.Gly95Arg
NM_001323544.2:c.283G>C	NP_001310473.1:p.Gly95Arg
ENST00000268695.9:c.265G>C	ENSP00000268695.5:p.Gly89Arg
ENST00000562593.5:n.3674G>C
ENST00000562831.1:c.49G>C	ENSP00000455174.1:p.Gly17Arg
ENST00000565364.1:n.400G>C
ENST00000567525.5:c.90G>C	ENSP00000454484.1:p.Gln30His
ENST00000567779.1:n.95G>C
ENST00000568613.5:c.384G>C	ENSP00000457921.1:n.384G>C
XM_005256301.2:c.265G>C	XP_005256358.1:p.Gly89Arg
XM_005256301.3:c.265G>C	XP_005256358.1:p.Gly89Arg
XM_005256302.1:c.283G>C	XP_005256359.1:p.Gly95Arg
XM_011522982.1:c.283G>C	XP_011521284.1:p.Gly95Arg
XM_011522982.2:c.283G>C	XP_011521284.1:p.Gly95Arg
XM_011522984.1:c.283G>C	XP_011521286.1:p.Gly95Arg
XM_017023111.2:c.283G>C	XP_016878600.1:p.Gly95Arg
XM_017023112.2:c.283G>C	XP_016878601.1:p.Gly95Arg
XM_017023113.1:c.-291G>C	XP_016878602.1:n.-291G>C