Canonical Allele Identifier: CA114869

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43161469dup , CM000670.2:g.43161469dup	GRCh38
NC_000008.10:g.43016612dup , CM000670.1:g.43016612dup	GRCh37
NC_000008.9:g.43135769dup	NCBI36
NG_009552.1:g.26021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.525dup MANE Select	ENSP00000368965.4:p.Val176CysfsTer16
ENST00000379644.8:c.525dup	ENSP00000368965.4:p.Val176CysfsTer16
ENST00000517319.1:c.388dup	ENSP00000430032.1:n.388dup
ENST00000520704.1:c.375dup	ENSP00000429109.1:p.Val126CysfsTer?
NM_152419.2:c.525dup	NP_689632.2:p.Val176CysfsTer16
XM_005273409.1:c.525dup	XP_005273466.1:p.Val176CysfsTer16
XM_005273410.1:c.525dup	XP_005273467.1:p.Val176CysfsTer16
XM_005273411.1:c.525dup	XP_005273468.1:p.Val176CysfsTer16
XM_005273412.2:c.525dup	XP_005273469.1:p.Val176CysfsTer16
NM_001363227.1:c.525dup	NP_001350156.1:p.Val176CysfsTer16
NM_001363228.1:c.525dup	NP_001350157.1:p.Val176CysfsTer16
NM_001363229.1:c.-309dup	NP_001350158.1:n.-309dup
XM_005273412.4:c.525dup	XP_005273469.1:p.Val176CysfsTer16
NM_152419.3:c.525dup MANE Select	NP_689632.2:p.Val176CysfsTer16
NM_001363227.2:c.525dup	NP_001350156.1:p.Val176CysfsTer16
NM_001363228.2:c.525dup	NP_001350157.1:p.Val176CysfsTer16
NM_001363229.2:c.-309dup	NP_001350158.1:n.-309dup