Canonical Allele Identifier: CA2241328602
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88841876T= , CM000678.2:g.88841876T= GRCh38
NC_000016.9:g.88908284T= , CM000678.1:g.88908284T= GRCh37
NC_000016.8:g.87435785T= NCBI36
NG_008667.1:g.20091A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.319+21A= MANE Select ENSP00000268695.5:n.319+21A=
ENST00000268695.9:c.319+21A= ENSP00000268695.5:n.319+21A=
ENST00000562593.5:n.3728+21A=
ENST00000562831.1:c.103+21A= ENSP00000455174.1:n.103+21A=
ENST00000565364.1:n.454+21A=
ENST00000567525.5:c.144+21A= ENSP00000454484.1:n.144+21A=
ENST00000567779.1:n.149+21A=
ENST00000568613.5:c.438+21A= ENSP00000457921.1:n.438+21A=
NM_000512.4:c.319+21A= NP_000503.1:n.319+21A=
XM_005256301.2:c.319+21A= XP_005256358.1:n.319+21A=
XM_005256302.1:c.337+21A= XP_005256359.1:n.337+21A=
XM_011522982.1:c.337+21A= XP_011521284.1:n.337+21A=
XM_011522984.1:c.337+21A= XP_011521286.1:n.337+21A=
NM_001323543.1:c.-237+21A= NP_001310472.1:n.-237+21A=
NM_001323544.1:c.337+21A= NP_001310473.1:n.337+21A=
XM_005256301.3:c.319+21A= XP_005256358.1:n.319+21A=
XM_011522982.2:c.337+21A= XP_011521284.1:n.337+21A=
XM_017023111.2:c.337+21A= XP_016878600.1:n.337+21A=
XM_017023112.2:c.337+21A= XP_016878601.1:n.337+21A=
XM_017023113.1:c.-237+21A= XP_016878602.1:n.-237+21A=
NM_000512.5:c.319+21A= MANE Select NP_000503.1:n.319+21A=
NM_001323543.2:c.-237+21A= NP_001310472.1:n.-237+21A=
NM_001323544.2:c.337+21A= NP_001310473.1:n.337+21A=