Canonical Allele Identifier: CA10586138

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 252961
• ClinVar RCV Id: RCV000239404 ; RCV001030804 ; RCV003765485
• dbSNP Id: rs370717845
• MyVariant Identifiers: chr8:g.43016605G>A (hg19) ; chr8:g.43161462G>A (hg38)
• PubMed: PMID:27827379

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43161462G>A , CM000670.2:g.43161462G>A	GRCh38
NC_000008.10:g.43016605G>A , CM000670.1:g.43016605G>A	GRCh37
NC_000008.9:g.43135762G>A	NCBI36
NG_009552.1:g.26014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.518G>A MANE Select	ENSP00000368965.4:p.Gly173Asp
ENST00000379644.8:c.518G>A	ENSP00000368965.4:p.Gly173Asp
ENST00000517319.1:c.381G>A	ENSP00000430032.1:n.381G>A
ENST00000520704.1:c.368G>A	ENSP00000429109.1:p.Gly123Asp
NM_152419.2:c.518G>A	NP_689632.2:p.Gly173Asp
XM_005273409.1:c.518G>A	XP_005273466.1:p.Gly173Asp
XM_005273410.1:c.518G>A	XP_005273467.1:p.Gly173Asp
XM_005273411.1:c.518G>A	XP_005273468.1:p.Gly173Asp
XM_005273412.2:c.518G>A	XP_005273469.1:p.Gly173Asp
NM_001363227.1:c.518G>A	NP_001350156.1:p.Gly173Asp
NM_001363228.1:c.518G>A	NP_001350157.1:p.Gly173Asp
NM_001363229.1:c.-316G>A	NP_001350158.1:n.-316G>A
XM_005273412.4:c.518G>A	XP_005273469.1:p.Gly173Asp
NM_152419.3:c.518G>A MANE Select	NP_689632.2:p.Gly173Asp
NM_001363227.2:c.518G>A	NP_001350156.1:p.Gly173Asp
NM_001363228.2:c.518G>A	NP_001350157.1:p.Gly173Asp
NM_001363229.2:c.-316G>A	NP_001350158.1:n.-316G>A