Canonical Allele Identifier: CA397089148

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841927A>C , CM000678.2:g.88841927A>C	GRCh38
NC_000016.9:g.88908335A>C , CM000678.1:g.88908335A>C	GRCh37
NC_000016.8:g.87435836A>C	NCBI36
NG_008667.1:g.20040T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.289T>G MANE Select	NP_000503.1:p.Phe97Val
ENST00000268695.10:c.289T>G MANE Select	ENSP00000268695.5:p.Phe97Val
NM_000512.4:c.289T>G	NP_000503.1:p.Phe97Val
NM_001323543.1:c.-267T>G	NP_001310472.1:n.-267T>G
NM_001323543.2:c.-267T>G	NP_001310472.1:n.-267T>G
NM_001323544.1:c.307T>G	NP_001310473.1:p.Phe103Val
NM_001323544.2:c.307T>G	NP_001310473.1:p.Phe103Val
ENST00000268695.9:c.289T>G	ENSP00000268695.5:p.Phe97Val
ENST00000562593.5:n.3698T>G
ENST00000562831.1:c.73T>G	ENSP00000455174.1:p.Phe25Val
ENST00000565364.1:n.424T>G
ENST00000567525.5:c.114T>G	ENSP00000454484.1:p.Ala38=
ENST00000567779.1:n.119T>G
ENST00000568613.5:c.408T>G	ENSP00000457921.1:n.408T>G
XM_005256301.2:c.289T>G	XP_005256358.1:p.Phe97Val
XM_005256301.3:c.289T>G	XP_005256358.1:p.Phe97Val
XM_005256302.1:c.307T>G	XP_005256359.1:p.Phe103Val
XM_011522982.1:c.307T>G	XP_011521284.1:p.Phe103Val
XM_011522982.2:c.307T>G	XP_011521284.1:p.Phe103Val
XM_011522984.1:c.307T>G	XP_011521286.1:p.Phe103Val
XM_017023111.2:c.307T>G	XP_016878600.1:p.Phe103Val
XM_017023112.2:c.307T>G	XP_016878601.1:p.Phe103Val
XM_017023113.1:c.-267T>G	XP_016878602.1:n.-267T>G