Canonical Allele Identifier: CA2241318988
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88826902A= , CM000678.2:g.88826902A= GRCh38
NC_000016.9:g.88893310A= , CM000678.1:g.88893310A= GRCh37
NC_000016.8:g.87420811A= NCBI36
NG_008667.1:g.35065T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.1003-64T= MANE Select ENSP00000268695.5:n.1003-64T=
ENST00000268695.9:c.1003-64T= ENSP00000268695.5:n.1003-64T=
ENST00000562593.5:n.4412-64T=
ENST00000564263.1:n.215T=
ENST00000567525.5:c.684-64T= ENSP00000454484.1:n.684-64T=
ENST00000568613.5:c.1122-64T= ENSP00000457921.1:n.1122-64T=
NM_000512.4:c.1003-64T= NP_000503.1:n.1003-64T=
XM_005256301.2:c.1003-64T= XP_005256358.1:n.1003-64T=
XM_005256302.1:c.1021-64T= XP_005256359.1:n.1021-64T=
XM_011522982.1:c.1021-64T= XP_011521284.1:n.1021-64T=
XM_011522984.1:c.1021-64T= XP_011521286.1:n.1021-64T=
NM_001323543.1:c.448-64T= NP_001310472.1:n.448-64T=
NM_001323544.1:c.1021-64T= NP_001310473.1:n.1021-64T=
XM_005256301.3:c.1003-64T= XP_005256358.1:n.1003-64T=
XM_011522982.2:c.1021-64T= XP_011521284.1:n.1021-64T=
XM_017023111.2:c.1021-64T= XP_016878600.1:n.1021-64T=
XM_017023112.2:c.1021-64T= XP_016878601.1:n.1021-64T=
XM_017023113.1:c.448-64T= XP_016878602.1:n.448-64T=
NM_000512.5:c.1003-64T= MANE Select NP_000503.1:n.1003-64T=
NM_001323543.2:c.448-64T= NP_001310472.1:n.448-64T=
NM_001323544.2:c.1021-64T= NP_001310473.1:n.1021-64T=