Canonical Allele Identifier: CA2241324453
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835130C= , CM000678.2:g.88835130C= GRCh38
NC_000016.9:g.88901538C= , CM000678.1:g.88901538C= GRCh37
NC_000016.8:g.87429039C= NCBI36
NG_008667.1:g.26837G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.898+83G= MANE Select ENSP00000268695.5:n.898+83G=
ENST00000268695.9:c.898+83G= ENSP00000268695.5:n.898+83G=
ENST00000562593.5:n.4307+83G=
ENST00000562931.5:n.486+83G=
ENST00000567525.5:c.579+83G= ENSP00000454484.1:n.579+83G=
ENST00000568613.5:c.1017+83G= ENSP00000457921.1:n.1017+83G=
NM_000512.4:c.898+83G= NP_000503.1:n.898+83G=
XM_005256301.2:c.898+83G= XP_005256358.1:n.898+83G=
XM_005256302.1:c.916+83G= XP_005256359.1:n.916+83G=
XM_011522982.1:c.916+83G= XP_011521284.1:n.916+83G=
XM_011522984.1:c.916+83G= XP_011521286.1:n.916+83G=
NM_001323543.1:c.343+83G= NP_001310472.1:n.343+83G=
NM_001323544.1:c.916+83G= NP_001310473.1:n.916+83G=
XM_005256301.3:c.898+83G= XP_005256358.1:n.898+83G=
XM_011522982.2:c.916+83G= XP_011521284.1:n.916+83G=
XM_017023111.2:c.916+83G= XP_016878600.1:n.916+83G=
XM_017023112.2:c.916+83G= XP_016878601.1:n.916+83G=
XM_017023113.1:c.343+83G= XP_016878602.1:n.343+83G=
NM_000512.5:c.898+83G= MANE Select NP_000503.1:n.898+83G=
NM_001323543.2:c.343+83G= NP_001310472.1:n.343+83G=
NM_001323544.2:c.916+83G= NP_001310473.1:n.916+83G=