Canonical Allele Identifier: CA371118355

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 522867
• ClinVar RCV Id: RCV000626049
• dbSNP Id: rs1318217031
• MyVariant Identifiers: chr8:g.43037317G>A (hg19) ; chr8:g.43182174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182174G>A , CM000670.2:g.43182174G>A	GRCh38
NC_000008.10:g.43037317G>A , CM000670.1:g.43037317G>A	GRCh37
NC_000008.9:g.43156474G>A	NCBI36
NG_009552.1:g.46726G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1042G>A MANE Select	ENSP00000368965.4:p.Val348Met
ENST00000379644.8:c.1042G>A	ENSP00000368965.4:p.Val348Met
ENST00000519000.1:n.528G>A
ENST00000521576.1:c.193G>A	ENSP00000429029.1:p.Val65Met
ENST00000522082.5:c.283G>A	ENSP00000430151.1:p.Val95Met
ENST00000524016.5:c.146G>A
NM_152419.2:c.1042G>A	NP_689632.2:p.Val348Met
XM_005273409.1:c.1042G>A	XP_005273466.1:p.Val348Met
XM_005273410.1:c.1042G>A	XP_005273467.1:p.Val348Met
XM_005273411.1:c.850G>A	XP_005273468.1:p.Val284Met
XM_005273412.2:c.1042G>A	XP_005273469.1:p.Val348Met
NM_001363227.1:c.1042G>A	NP_001350156.1:p.Val348Met
NM_001363228.1:c.850G>A	NP_001350157.1:p.Val284Met
NM_001363229.1:c.178G>A	NP_001350158.1:p.Val60Met
XM_005273412.4:c.1042G>A	XP_005273469.1:p.Val348Met
NM_152419.3:c.1042G>A MANE Select	NP_689632.2:p.Val348Met
NM_001363227.2:c.1042G>A	NP_001350156.1:p.Val348Met
NM_001363228.2:c.850G>A	NP_001350157.1:p.Val284Met
NM_001363229.2:c.178G>A	NP_001350158.1:p.Val60Met