Canonical Allele Identifier: CA397097738
Gene: GALNS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88824862A>C , CM000678.2:g.88824862A>C GRCh38
NC_000016.9:g.88891270A>C , CM000678.1:g.88891270A>C GRCh37
NC_000016.8:g.87418771A>C NCBI36
NG_008667.1:g.37105T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.1147T>G MANE Select ENSP00000268695.5:p.Phe383Val
ENST00000268695.9:c.1147T>G ENSP00000268695.5:p.Phe383Val
ENST00000562593.5:n.4556T>G
ENST00000564263.1:n.423T>G
ENST00000567525.5:c.828T>G ENSP00000454484.1:n.828T>G
ENST00000568613.5:c.1266T>G ENSP00000457921.1:n.1266T>G
NM_000512.4:c.1147T>G NP_000503.1:p.Phe383Val
XM_005256301.2:c.1147T>G XP_005256358.1:p.Phe383Val
XM_005256302.1:c.1165T>G XP_005256359.1:p.Phe389Val
XM_011522982.1:c.1165T>G XP_011521284.1:p.Phe389Val
XM_011522984.1:c.1165T>G XP_011521286.1:p.Phe389Val
NM_001323543.1:c.592T>G NP_001310472.1:p.Phe198Val
NM_001323544.1:c.1165T>G NP_001310473.1:p.Phe389Val
XM_005256301.3:c.1147T>G XP_005256358.1:p.Phe383Val
XM_011522982.2:c.1165T>G XP_011521284.1:p.Phe389Val
XM_017023111.2:c.1165T>G XP_016878600.1:p.Phe389Val
XM_017023112.2:c.1165T>G XP_016878601.1:p.Phe389Val
XM_017023113.1:c.592T>G XP_016878602.1:p.Phe198Val
NM_000512.5:c.1147T>G MANE Select NP_000503.1:p.Phe383Val
NM_001323543.2:c.592T>G NP_001310472.1:p.Phe198Val
NM_001323544.2:c.1165T>G NP_001310473.1:p.Phe389Val