Canonical Allele Identifier: CA397081070

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836207G>T , CM000678.2:g.88836207G>T	GRCh38
NC_000016.9:g.88902615G>T , CM000678.1:g.88902615G>T	GRCh37
NC_000016.8:g.87430116G>T	NCBI36
NG_008667.1:g.25760C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.627C>A MANE Select	NP_000503.1:p.Tyr209Ter
ENST00000268695.10:c.627C>A MANE Select	ENSP00000268695.5:p.Tyr209Ter
NM_000512.4:c.627C>A	NP_000503.1:p.Tyr209Ter
NM_001323543.1:c.72C>A	NP_001310472.1:p.Tyr24Ter
NM_001323543.2:c.72C>A	NP_001310472.1:p.Tyr24Ter
NM_001323544.1:c.645C>A	NP_001310473.1:p.Tyr215Ter
NM_001323544.2:c.645C>A	NP_001310473.1:p.Tyr215Ter
ENST00000268695.9:c.627C>A	ENSP00000268695.5:p.Tyr209Ter
ENST00000562593.5:n.4036C>A
ENST00000562831.1:c.411C>A	ENSP00000455174.1:p.Tyr137Ter
ENST00000562931.5:n.215C>A
ENST00000566563.1:n.329C>A
ENST00000567525.5:c.308C>A	ENSP00000454484.1:n.308C>A
ENST00000568613.5:c.746C>A	ENSP00000457921.1:n.746C>A
XM_005256301.2:c.627C>A	XP_005256358.1:p.Tyr209Ter
XM_005256301.3:c.627C>A	XP_005256358.1:p.Tyr209Ter
XM_005256302.1:c.645C>A	XP_005256359.1:p.Tyr215Ter
XM_011522982.1:c.645C>A	XP_011521284.1:p.Tyr215Ter
XM_011522982.2:c.645C>A	XP_011521284.1:p.Tyr215Ter
XM_011522984.1:c.645C>A	XP_011521286.1:p.Tyr215Ter
XM_017023111.2:c.645C>A	XP_016878600.1:p.Tyr215Ter
XM_017023112.2:c.645C>A	XP_016878601.1:p.Tyr215Ter
XM_017023113.1:c.72C>A	XP_016878602.1:p.Tyr24Ter