Canonical Allele Identifier: CA371124835

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43146993T>A , CM000670.2:g.43146993T>A	GRCh38
NC_000008.10:g.43002136T>A , CM000670.1:g.43002136T>A	GRCh37
NC_000008.9:g.43121293T>A	NCBI36
NG_009552.1:g.11545T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.164T>A MANE Select	NP_689632.2:p.Leu55Ter
ENST00000379644.9:c.164T>A MANE Select	ENSP00000368965.4:p.Leu55Ter
NM_001363227.1:c.164T>A	NP_001350156.1:p.Leu55Ter
NM_001363227.2:c.164T>A	NP_001350156.1:p.Leu55Ter
NM_001363228.1:c.164T>A	NP_001350157.1:p.Leu55Ter
NM_001363228.2:c.164T>A	NP_001350157.1:p.Leu55Ter
NM_001363229.1:c.-670T>A	NP_001350158.1:n.-670T>A
NM_001363229.2:c.-670T>A	NP_001350158.1:n.-670T>A
NM_152419.2:c.164T>A	NP_689632.2:p.Leu55Ter
ENST00000379644.8:c.164T>A	ENSP00000368965.4:p.Leu55Ter
ENST00000517319.1:c.164T>A	ENSP00000430032.1:p.Leu55Ter
ENST00000520704.1:c.14T>A	ENSP00000429109.1:p.Leu5Ter
XM_005273409.1:c.164T>A	XP_005273466.1:p.Leu55Ter
XM_005273410.1:c.164T>A	XP_005273467.1:p.Leu55Ter
XM_005273411.1:c.164T>A	XP_005273468.1:p.Leu55Ter
XM_005273412.2:c.164T>A	XP_005273469.1:p.Leu55Ter
XM_005273412.4:c.164T>A	XP_005273469.1:p.Leu55Ter