Canonical Allele Identifier: CA286406066

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841050G>A , CM000678.2:g.88841050G>A	GRCh38
NC_000016.9:g.88907458G>A , CM000678.1:g.88907458G>A	GRCh37
NC_000016.8:g.87434959G>A	NCBI36
NG_008667.1:g.20917C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.364C>T MANE Select	NP_000503.1:p.Gln122Ter
ENST00000268695.10:c.364C>T MANE Select	ENSP00000268695.5:p.Gln122Ter
NM_000512.4:c.364C>T	NP_000503.1:p.Gln122Ter
NM_001323543.1:c.-192C>T	NP_001310472.1:n.-192C>T
NM_001323543.2:c.-192C>T	NP_001310472.1:n.-192C>T
NM_001323544.1:c.382C>T	NP_001310473.1:p.Gln128Ter
NM_001323544.2:c.382C>T	NP_001310473.1:p.Gln128Ter
ENST00000268695.9:c.364C>T	ENSP00000268695.5:p.Gln122Ter
ENST00000562593.5:n.3773C>T
ENST00000562831.1:c.148C>T	ENSP00000455174.1:p.Gln50Ter
ENST00000565364.1:n.499C>T
ENST00000567525.5:c.189C>T	ENSP00000454484.1:p.Ser63=
ENST00000567779.1:n.194C>T
ENST00000568613.5:c.483C>T	ENSP00000457921.1:n.483C>T
XM_005256301.2:c.364C>T	XP_005256358.1:p.Gln122Ter
XM_005256301.3:c.364C>T	XP_005256358.1:p.Gln122Ter
XM_005256302.1:c.382C>T	XP_005256359.1:p.Gln128Ter
XM_011522982.1:c.382C>T	XP_011521284.1:p.Gln128Ter
XM_011522982.2:c.382C>T	XP_011521284.1:p.Gln128Ter
XM_011522984.1:c.382C>T	XP_011521286.1:p.Gln128Ter
XM_017023111.2:c.382C>T	XP_016878600.1:p.Gln128Ter
XM_017023112.2:c.382C>T	XP_016878601.1:p.Gln128Ter
XM_017023113.1:c.-192C>T	XP_016878602.1:n.-192C>T