Canonical Allele Identifier: CA371120116

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43196949C>A , CM000670.2:g.43196949C>A	GRCh38
NC_000008.10:g.43052092C>A , CM000670.1:g.43052092C>A	GRCh37
NC_000008.9:g.43171249C>A	NCBI36
NG_009552.1:g.61501C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1466C>A MANE Select	NP_689632.2:p.Ala489Glu
ENST00000379644.9:c.1466C>A MANE Select	ENSP00000368965.4:p.Ala489Glu
NM_001363227.1:c.1553C>A	NP_001350156.1:p.Ala518Glu
NM_001363227.2:c.1553C>A	NP_001350156.1:p.Ala518Glu
NM_001363228.1:c.1274C>A	NP_001350157.1:p.Ala425Glu
NM_001363228.2:c.1274C>A	NP_001350157.1:p.Ala425Glu
NM_001363229.1:c.602C>A	NP_001350158.1:p.Ala201Glu
NM_001363229.2:c.602C>A	NP_001350158.1:p.Ala201Glu
NM_152419.2:c.1466C>A	NP_689632.2:p.Ala489Glu
ENST00000379644.8:c.1466C>A	ENSP00000368965.4:p.Ala489Glu
ENST00000519705.1:n.782C>A
ENST00000521576.1:c.617C>A	ENSP00000429029.1:p.Ala206Glu
ENST00000523989.1:n.1133C>A
ENST00000524016.5:c.681C>A
XM_005273409.1:c.1577C>A	XP_005273466.1:p.Ala526Glu
XM_005273410.1:c.1553C>A	XP_005273467.1:p.Ala518Glu
XM_005273411.1:c.1385C>A	XP_005273468.1:p.Ala462Glu