Canonical Allele Identifier: CA460574665

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43037319G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182176G>T , CM000670.2:g.43182176G>T	GRCh38
NC_000008.10:g.43037319G>T , CM000670.1:g.43037319G>T	GRCh37
NC_000008.9:g.43156476G>T	NCBI36
NG_009552.1:g.46728G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1044G>T MANE Select	ENSP00000368965.4:p.Val348=
ENST00000379644.8:c.1044G>T	ENSP00000368965.4:p.Val348=
ENST00000519000.1:n.530G>T
ENST00000521576.1:c.195G>T	ENSP00000429029.1:p.Val65=
ENST00000522082.5:c.285G>T	ENSP00000430151.1:p.Val95=
ENST00000524016.5:c.148G>T
NM_152419.2:c.1044G>T	NP_689632.2:p.Val348=
XM_005273409.1:c.1044G>T	XP_005273466.1:p.Val348=
XM_005273410.1:c.1044G>T	XP_005273467.1:p.Val348=
XM_005273411.1:c.852G>T	XP_005273468.1:p.Val284=
XM_005273412.2:c.1044G>T	XP_005273469.1:p.Val348=
NM_001363227.1:c.1044G>T	NP_001350156.1:p.Val348=
NM_001363228.1:c.852G>T	NP_001350157.1:p.Val284=
NM_001363229.1:c.180G>T	NP_001350158.1:p.Val60=
XM_005273412.4:c.1044G>T	XP_005273469.1:p.Val348=
NM_152419.3:c.1044G>T MANE Select	NP_689632.2:p.Val348=
NM_001363227.2:c.1044G>T	NP_001350156.1:p.Val348=
NM_001363228.2:c.852G>T	NP_001350157.1:p.Val284=
NM_001363229.2:c.180G>T	NP_001350158.1:p.Val60=