Canonical Allele Identifier: CA460571382

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43028875C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173732C>A , CM000670.2:g.43173732C>A	GRCh38
NC_000008.10:g.43028875C>A , CM000670.1:g.43028875C>A	GRCh37
NC_000008.9:g.43148032C>A	NCBI36
NG_009552.1:g.38284C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.840C>A MANE Select	ENSP00000368965.4:p.Leu280=
ENST00000379644.8:c.840C>A	ENSP00000368965.4:p.Leu280=
ENST00000520704.1:c.*289C>A	ENSP00000429109.1:n.*289C>A
ENST00000522082.5:c.81C>A	ENSP00000430151.1:p.Leu27=
NM_152419.2:c.840C>A	NP_689632.2:p.Leu280=
XM_005273409.1:c.840C>A	XP_005273466.1:p.Leu280=
XM_005273410.1:c.840C>A	XP_005273467.1:p.Leu280=
XM_005273411.1:c.820+1346C>A	XP_005273468.1:n.820+1346C>A
XM_005273412.2:c.840C>A	XP_005273469.1:p.Leu280=
NM_001363227.1:c.840C>A	NP_001350156.1:p.Leu280=
NM_001363228.1:c.820+1346C>A	NP_001350157.1:n.820+1346C>A
NM_001363229.1:c.-14+1346C>A	NP_001350158.1:n.-14+1346C>A
XM_005273412.4:c.840C>A	XP_005273469.1:p.Leu280=
NM_152419.3:c.840C>A MANE Select	NP_689632.2:p.Leu280=
NM_001363227.2:c.840C>A	NP_001350156.1:p.Leu280=
NM_001363228.2:c.820+1346C>A	NP_001350157.1:n.820+1346C>A
NM_001363229.2:c.-14+1346C>A	NP_001350158.1:n.-14+1346C>A