Canonical Allele Identifier: CA1779769535

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173738C= , CM000670.2:g.43173738C=	GRCh38
NC_000008.10:g.43028881C= , CM000670.1:g.43028881C=	GRCh37
NC_000008.9:g.43148038C=	NCBI36
NG_009552.1:g.38290C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.846C= MANE Select	ENSP00000368965.4:p.Phe282=
ENST00000379644.8:c.846C=	ENSP00000368965.4:p.Phe282=
ENST00000520704.1:c.*295C=	ENSP00000429109.1:n.*295C=
ENST00000522082.5:c.87C=	ENSP00000430151.1:p.Phe29=
NM_152419.2:c.846C=	NP_689632.2:p.Phe282=
XM_005273409.1:c.846C=	XP_005273466.1:p.Phe282=
XM_005273410.1:c.846C=	XP_005273467.1:p.Phe282=
XM_005273411.1:c.820+1352C=	XP_005273468.1:n.820+1352C=
XM_005273412.2:c.846C=	XP_005273469.1:p.Phe282=
NM_001363227.1:c.846C=	NP_001350156.1:p.Phe282=
NM_001363228.1:c.820+1352C=	NP_001350157.1:n.820+1352C=
NM_001363229.1:c.-14+1352C=	NP_001350158.1:n.-14+1352C=
XM_005273412.4:c.846C=	XP_005273469.1:p.Phe282=
NM_152419.3:c.846C= MANE Select	NP_689632.2:p.Phe282=
NM_001363227.2:c.846C=	NP_001350156.1:p.Phe282=
NM_001363228.2:c.820+1352C=	NP_001350157.1:n.820+1352C=
NM_001363229.2:c.-14+1352C=	NP_001350158.1:n.-14+1352C=