Canonical Allele Identifier: CA1779769536

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173740C= , CM000670.2:g.43173740C=	GRCh38
NC_000008.10:g.43028883C= , CM000670.1:g.43028883C=	GRCh37
NC_000008.9:g.43148040C=	NCBI36
NG_009552.1:g.38292C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.848C= MANE Select	ENSP00000368965.4:p.Pro283=
ENST00000379644.8:c.848C=	ENSP00000368965.4:p.Pro283=
ENST00000520704.1:c.*297C=	ENSP00000429109.1:n.*297C=
ENST00000522082.5:c.89C=	ENSP00000430151.1:p.Pro30=
NM_152419.2:c.848C=	NP_689632.2:p.Pro283=
XM_005273409.1:c.848C=	XP_005273466.1:p.Pro283=
XM_005273410.1:c.848C=	XP_005273467.1:p.Pro283=
XM_005273411.1:c.820+1354C=	XP_005273468.1:n.820+1354C=
XM_005273412.2:c.848C=	XP_005273469.1:p.Pro283=
NM_001363227.1:c.848C=	NP_001350156.1:p.Pro283=
NM_001363228.1:c.820+1354C=	NP_001350157.1:n.820+1354C=
NM_001363229.1:c.-14+1354C=	NP_001350158.1:n.-14+1354C=
XM_005273412.4:c.848C=	XP_005273469.1:p.Pro283=
NM_152419.3:c.848C= MANE Select	NP_689632.2:p.Pro283=
NM_001363227.2:c.848C=	NP_001350156.1:p.Pro283=
NM_001363228.2:c.820+1354C=	NP_001350157.1:n.820+1354C=
NM_001363229.2:c.-14+1354C=	NP_001350158.1:n.-14+1354C=