Canonical Allele Identifier: CA371117214

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43178170G>A , CM000670.2:g.43178170G>A	GRCh38
NC_000008.10:g.43033313G>A , CM000670.1:g.43033313G>A	GRCh37
NC_000008.9:g.43152470G>A	NCBI36
NG_009552.1:g.42722G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.948G>A MANE Select	NP_689632.2:p.Trp316Ter
ENST00000379644.9:c.948G>A MANE Select	ENSP00000368965.4:p.Trp316Ter
NM_001363227.1:c.948G>A	NP_001350156.1:p.Trp316Ter
NM_001363227.2:c.948G>A	NP_001350156.1:p.Trp316Ter
NM_001363228.1:c.821-3975G>A	NP_001350157.1:n.821-3975G>A
NM_001363228.2:c.821-3975G>A	NP_001350157.1:n.821-3975G>A
NM_001363229.1:c.84G>A	NP_001350158.1:p.Trp28Ter
NM_001363229.2:c.84G>A	NP_001350158.1:p.Trp28Ter
NM_152419.2:c.948G>A	NP_689632.2:p.Trp316Ter
ENST00000379644.8:c.948G>A	ENSP00000368965.4:p.Trp316Ter
ENST00000522082.5:c.189G>A	ENSP00000430151.1:p.Trp63Ter
ENST00000524016.5:c.52G>A
XM_005273409.1:c.948G>A	XP_005273466.1:p.Trp316Ter
XM_005273410.1:c.948G>A	XP_005273467.1:p.Trp316Ter
XM_005273411.1:c.821-3975G>A	XP_005273468.1:n.821-3975G>A
XM_005273412.2:c.948G>A	XP_005273469.1:p.Trp316Ter
XM_005273412.4:c.948G>A	XP_005273469.1:p.Trp316Ter