Canonical Allele Identifier: CA1779760564

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193761T= , CM000670.2:g.43193761T=	GRCh38
NC_000008.10:g.43048904T= , CM000670.1:g.43048904T=	GRCh37
NC_000008.9:g.43168061T=	NCBI36
NG_009552.1:g.58313T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1382T= MANE Select	ENSP00000368965.4:p.Leu461=
ENST00000379644.8:c.1382T=	ENSP00000368965.4:p.Leu461=
ENST00000520678.1:n.315T=
ENST00000521576.1:c.533T=	ENSP00000429029.1:p.Leu178=
ENST00000524016.5:c.486T=
NM_152419.2:c.1382T=	NP_689632.2:p.Leu461=
XM_005273409.1:c.1382T=	XP_005273466.1:p.Leu461=
XM_005273410.1:c.1382T=	XP_005273467.1:p.Leu461=
XM_005273411.1:c.1190T=	XP_005273468.1:p.Leu397=
XM_005273412.2:c.1382T=	XP_005273469.1:p.Leu461=
NM_001363227.1:c.1382T=	NP_001350156.1:p.Leu461=
NM_001363228.1:c.1190T=	NP_001350157.1:p.Leu397=
NM_001363229.1:c.518T=	NP_001350158.1:p.Leu173=
XM_005273412.4:c.1382T=	XP_005273469.1:p.Leu461=
NM_152419.3:c.1382T= MANE Select	NP_689632.2:p.Leu461=
NM_001363227.2:c.1382T=	NP_001350156.1:p.Leu461=
NM_001363228.2:c.1190T=	NP_001350157.1:p.Leu397=
NM_001363229.2:c.518T=	NP_001350158.1:p.Leu173=