Canonical Allele Identifier: CA2241324678
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835479G= , CM000678.2:g.88835479G= GRCh38
NC_000016.9:g.88901887G= , CM000678.1:g.88901887G= GRCh37
NC_000016.8:g.87429388G= NCBI36
NG_008667.1:g.26488C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.759-127C= MANE Select ENSP00000268695.5:n.759-127C=
ENST00000268695.9:c.759-127C= ENSP00000268695.5:n.759-127C=
ENST00000562593.5:n.4168-127C=
ENST00000562931.5:n.347-127C=
ENST00000567525.5:c.440-127C= ENSP00000454484.1:n.440-127C=
ENST00000568613.5:c.878-127C= ENSP00000457921.1:n.878-127C=
NM_000512.4:c.759-127C= NP_000503.1:n.759-127C=
XM_005256301.2:c.759-127C= XP_005256358.1:n.759-127C=
XM_005256302.1:c.777-127C= XP_005256359.1:n.777-127C=
XM_011522982.1:c.777-127C= XP_011521284.1:n.777-127C=
XM_011522984.1:c.777-127C= XP_011521286.1:n.777-127C=
NM_001323543.1:c.204-127C= NP_001310472.1:n.204-127C=
NM_001323544.1:c.777-127C= NP_001310473.1:n.777-127C=
XM_005256301.3:c.759-127C= XP_005256358.1:n.759-127C=
XM_011522982.2:c.777-127C= XP_011521284.1:n.777-127C=
XM_017023111.2:c.777-127C= XP_016878600.1:n.777-127C=
XM_017023112.2:c.777-127C= XP_016878601.1:n.777-127C=
XM_017023113.1:c.204-127C= XP_016878602.1:n.204-127C=
NM_000512.5:c.759-127C= MANE Select NP_000503.1:n.759-127C=
NM_001323543.2:c.204-127C= NP_001310472.1:n.204-127C=
NM_001323544.2:c.777-127C= NP_001310473.1:n.777-127C=