Canonical Allele Identifier: CA286402788

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835764T>C , CM000678.2:g.88835764T>C	GRCh38
NC_000016.9:g.88902172T>C , CM000678.1:g.88902172T>C	GRCh37
NC_000016.8:g.87429673T>C	NCBI36
NG_008667.1:g.26203A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.719A>G MANE Select	NP_000503.1:p.Tyr240Cys
ENST00000268695.10:c.719A>G MANE Select	ENSP00000268695.5:p.Tyr240Cys
NM_000512.4:c.719A>G	NP_000503.1:p.Tyr240Cys
NM_001323543.1:c.164A>G	NP_001310472.1:p.Tyr55Cys
NM_001323543.2:c.164A>G	NP_001310472.1:p.Tyr55Cys
NM_001323544.1:c.737A>G	NP_001310473.1:p.Tyr246Cys
NM_001323544.2:c.737A>G	NP_001310473.1:p.Tyr246Cys
ENST00000268695.9:c.719A>G	ENSP00000268695.5:p.Tyr240Cys
ENST00000562593.5:n.4128A>G
ENST00000562831.1:c.503A>G	ENSP00000455174.1:p.Tyr168Cys
ENST00000562931.5:n.307A>G
ENST00000566563.1:n.421A>G
ENST00000567525.5:c.400A>G	ENSP00000454484.1:n.400A>G
ENST00000568613.5:c.838A>G	ENSP00000457921.1:n.838A>G
XM_005256301.2:c.719A>G	XP_005256358.1:p.Tyr240Cys
XM_005256301.3:c.719A>G	XP_005256358.1:p.Tyr240Cys
XM_005256302.1:c.737A>G	XP_005256359.1:p.Tyr246Cys
XM_011522982.1:c.737A>G	XP_011521284.1:p.Tyr246Cys
XM_011522982.2:c.737A>G	XP_011521284.1:p.Tyr246Cys
XM_011522984.1:c.737A>G	XP_011521286.1:p.Tyr246Cys
XM_017023111.2:c.737A>G	XP_016878600.1:p.Tyr246Cys
XM_017023112.2:c.737A>G	XP_016878601.1:p.Tyr246Cys
XM_017023113.1:c.164A>G	XP_016878602.1:p.Tyr55Cys