Canonical Allele Identifier: CA397097738

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88891270A>C (hg19) ; chr16:g.88824862A>C (hg38)

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