Canonical Allele Identifier: CA397080790

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835842A>C , CM000678.2:g.88835842A>C	GRCh38
NC_000016.9:g.88902250A>C , CM000678.1:g.88902250A>C	GRCh37
NC_000016.8:g.87429751A>C	NCBI36
NG_008667.1:g.26125T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.641T>G MANE Select	NP_000503.1:p.Leu214Arg
ENST00000268695.10:c.641T>G MANE Select	ENSP00000268695.5:p.Leu214Arg
NM_000512.4:c.641T>G	NP_000503.1:p.Leu214Arg
NM_001323543.1:c.86T>G	NP_001310472.1:p.Leu29Arg
NM_001323543.2:c.86T>G	NP_001310472.1:p.Leu29Arg
NM_001323544.1:c.659T>G	NP_001310473.1:p.Leu220Arg
NM_001323544.2:c.659T>G	NP_001310473.1:p.Leu220Arg
ENST00000268695.9:c.641T>G	ENSP00000268695.5:p.Leu214Arg
ENST00000562593.5:n.4050T>G
ENST00000562831.1:c.425T>G	ENSP00000455174.1:p.Leu142Arg
ENST00000562931.5:n.229T>G
ENST00000566563.1:n.343T>G
ENST00000567525.5:c.322T>G	ENSP00000454484.1:n.322T>G
ENST00000568613.5:c.760T>G	ENSP00000457921.1:n.760T>G
XM_005256301.2:c.641T>G	XP_005256358.1:p.Leu214Arg
XM_005256301.3:c.641T>G	XP_005256358.1:p.Leu214Arg
XM_005256302.1:c.659T>G	XP_005256359.1:p.Leu220Arg
XM_011522982.1:c.659T>G	XP_011521284.1:p.Leu220Arg
XM_011522982.2:c.659T>G	XP_011521284.1:p.Leu220Arg
XM_011522984.1:c.659T>G	XP_011521286.1:p.Leu220Arg
XM_017023111.2:c.659T>G	XP_016878600.1:p.Leu220Arg
XM_017023112.2:c.659T>G	XP_016878601.1:p.Leu220Arg
XM_017023113.1:c.86T>G	XP_016878602.1:p.Leu29Arg