Canonical Allele Identifier: CA2241318950
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88826848A= , CM000678.2:g.88826848A= GRCh38
NC_000016.9:g.88893256A= , CM000678.1:g.88893256A= GRCh37
NC_000016.8:g.87420757A= NCBI36
NG_008667.1:g.35119T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.1003-10T= MANE Select ENSP00000268695.5:n.1003-10T=
ENST00000268695.9:c.1003-10T= ENSP00000268695.5:n.1003-10T=
ENST00000562593.5:n.4412-10T=
ENST00000564263.1:n.269T=
ENST00000567525.5:c.684-10T= ENSP00000454484.1:n.684-10T=
ENST00000568613.5:c.1122-10T= ENSP00000457921.1:n.1122-10T=
NM_000512.4:c.1003-10T= NP_000503.1:n.1003-10T=
XM_005256301.2:c.1003-10T= XP_005256358.1:n.1003-10T=
XM_005256302.1:c.1021-10T= XP_005256359.1:n.1021-10T=
XM_011522982.1:c.1021-10T= XP_011521284.1:n.1021-10T=
XM_011522984.1:c.1021-10T= XP_011521286.1:n.1021-10T=
NM_001323543.1:c.448-10T= NP_001310472.1:n.448-10T=
NM_001323544.1:c.1021-10T= NP_001310473.1:n.1021-10T=
XM_005256301.3:c.1003-10T= XP_005256358.1:n.1003-10T=
XM_011522982.2:c.1021-10T= XP_011521284.1:n.1021-10T=
XM_017023111.2:c.1021-10T= XP_016878600.1:n.1021-10T=
XM_017023112.2:c.1021-10T= XP_016878601.1:n.1021-10T=
XM_017023113.1:c.448-10T= XP_016878602.1:n.448-10T=
NM_000512.5:c.1003-10T= MANE Select NP_000503.1:n.1003-10T=
NM_001323543.2:c.448-10T= NP_001310472.1:n.448-10T=
NM_001323544.2:c.1021-10T= NP_001310473.1:n.1021-10T=