Canonical Allele Identifier: CA397098478

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826792A>G , CM000678.2:g.88826792A>G	GRCh38
NC_000016.9:g.88893200A>G , CM000678.1:g.88893200A>G	GRCh37
NC_000016.8:g.87420701A>G	NCBI36
NG_008667.1:g.35175T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1049T>C MANE Select	NP_000503.1:p.Leu350Pro
ENST00000268695.10:c.1049T>C MANE Select	ENSP00000268695.5:p.Leu350Pro
NM_000512.4:c.1049T>C	NP_000503.1:p.Leu350Pro
NM_001323543.1:c.494T>C	NP_001310472.1:p.Leu165Pro
NM_001323543.2:c.494T>C	NP_001310472.1:p.Leu165Pro
NM_001323544.1:c.1067T>C	NP_001310473.1:p.Leu356Pro
NM_001323544.2:c.1067T>C	NP_001310473.1:p.Leu356Pro
ENST00000268695.9:c.1049T>C	ENSP00000268695.5:p.Leu350Pro
ENST00000562593.5:n.4458T>C
ENST00000564263.1:n.325T>C
ENST00000567525.5:c.730T>C	ENSP00000454484.1:n.730T>C
ENST00000568613.5:c.1168T>C	ENSP00000457921.1:n.1168T>C
XM_005256301.2:c.1049T>C	XP_005256358.1:p.Leu350Pro
XM_005256301.3:c.1049T>C	XP_005256358.1:p.Leu350Pro
XM_005256302.1:c.1067T>C	XP_005256359.1:p.Leu356Pro
XM_011522982.1:c.1067T>C	XP_011521284.1:p.Leu356Pro
XM_011522982.2:c.1067T>C	XP_011521284.1:p.Leu356Pro
XM_011522984.1:c.1067T>C	XP_011521286.1:p.Leu356Pro
XM_017023111.2:c.1067T>C	XP_016878600.1:p.Leu356Pro
XM_017023112.2:c.1067T>C	XP_016878601.1:p.Leu356Pro
XM_017023113.1:c.494T>C	XP_016878602.1:p.Leu165Pro