Canonical Allele Identifier: CA2573152753

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1406013
• ClinVar RCV Id: RCV001906790

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835775_88835776delinsAC , CM000678.2:g.88835775_88835776delinsAC	GRCh38
NC_000016.9:g.88902183_88902184delinsAC , CM000678.1:g.88902183_88902184delinsAC	GRCh37
NC_000016.8:g.87429684_87429685delinsAC	NCBI36
NG_008667.1:g.26191_26192delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.707_708delinsGT MANE Select	ENSP00000268695.5:p.His236Arg
ENST00000268695.9:c.707_708delinsGT	ENSP00000268695.5:p.His236Arg
ENST00000562593.5:n.4116_4117delinsGT
ENST00000562831.1:c.491_492delinsGT	ENSP00000455174.1:p.His164Arg
ENST00000562931.5:n.295_296delinsGT
ENST00000566563.1:n.409_410delinsGT
ENST00000567525.5:c.388_389delinsGT	ENSP00000454484.1:n.388_389delinsGT
ENST00000568613.5:c.826_827delinsGT	ENSP00000457921.1:n.826_827delinsGT
NM_000512.4:c.707_708delinsGT	NP_000503.1:p.His236Arg
XM_005256301.2:c.707_708delinsGT	XP_005256358.1:p.His236Arg
XM_005256302.1:c.725_726delinsGT	XP_005256359.1:p.His242Arg
XM_011522982.1:c.725_726delinsGT	XP_011521284.1:p.His242Arg
XM_011522984.1:c.725_726delinsGT	XP_011521286.1:p.His242Arg
NM_001323543.1:c.152_153delinsGT	NP_001310472.1:p.His51Arg
NM_001323544.1:c.725_726delinsGT	NP_001310473.1:p.His242Arg
XM_005256301.3:c.707_708delinsGT	XP_005256358.1:p.His236Arg
XM_011522982.2:c.725_726delinsGT	XP_011521284.1:p.His242Arg
XM_017023111.2:c.725_726delinsGT	XP_016878600.1:p.His242Arg
XM_017023112.2:c.725_726delinsGT	XP_016878601.1:p.His242Arg
XM_017023113.1:c.152_153delinsGT	XP_016878602.1:p.His51Arg
NM_000512.5:c.707_708delinsGT MANE Select	NP_000503.1:p.His236Arg
NM_001323543.2:c.152_153delinsGT	NP_001310472.1:p.His51Arg
NM_001323544.2:c.725_726delinsGT	NP_001310473.1:p.His242Arg