Canonical Allele Identifier: CA4736598

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43170692G>A , CM000670.2:g.43170692G>A	GRCh38
NC_000008.10:g.43025835G>A , CM000670.1:g.43025835G>A	GRCh37
NC_000008.9:g.43144992G>A	NCBI36
NG_009552.1:g.35244G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.741G>A MANE Select	NP_689632.2:p.Arg247=
ENST00000379644.9:c.741G>A MANE Select	ENSP00000368965.4:p.Arg247=
NM_001363227.1:c.741G>A	NP_001350156.1:p.Arg247=
NM_001363227.2:c.741G>A	NP_001350156.1:p.Arg247=
NM_001363228.1:c.741G>A	NP_001350157.1:p.Arg247=
NM_001363228.2:c.741G>A	NP_001350157.1:p.Arg247=
NM_001363229.1:c.-93G>A	NP_001350158.1:n.-93G>A
NM_001363229.2:c.-93G>A	NP_001350158.1:n.-93G>A
NM_152419.2:c.741G>A	NP_689632.2:p.Arg247=
ENST00000379644.8:c.741G>A	ENSP00000368965.4:p.Arg247=
ENST00000520704.1:c.*190G>A	ENSP00000429109.1:n.*190G>A
XM_005273409.1:c.741G>A	XP_005273466.1:p.Arg247=
XM_005273410.1:c.741G>A	XP_005273467.1:p.Arg247=
XM_005273411.1:c.741G>A	XP_005273468.1:p.Arg247=
XM_005273412.2:c.741G>A	XP_005273469.1:p.Arg247=
XM_005273412.4:c.741G>A	XP_005273469.1:p.Arg247=