Canonical Allele Identifier: CA4736734

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 551378
• ClinVar RCV Id: RCV000666423
• dbSNP Id: rs766835582
• ExAC: 8:43037306 G / A
• gnomAD v2: 8-43037306-G-A
• gnomAD v3: 8-43182163-G-A
• gnomAD v4: 8-43182163-G-A
• COSMIC: COSM188594 ; COSM188595
• MyVariant Identifiers: chr8:g.43037306G>A (hg19) ; chr8:g.43182163G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182163G>A , CM000670.2:g.43182163G>A	GRCh38
NC_000008.10:g.43037306G>A , CM000670.1:g.43037306G>A	GRCh37
NC_000008.9:g.43156463G>A	NCBI36
NG_009552.1:g.46715G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1031G>A MANE Select	ENSP00000368965.4:p.Arg344His
ENST00000379644.8:c.1031G>A	ENSP00000368965.4:p.Arg344His
ENST00000519000.1:n.517G>A
ENST00000521576.1:c.182G>A	ENSP00000429029.1:p.Arg61His
ENST00000522082.5:c.272G>A	ENSP00000430151.1:p.Arg91His
ENST00000524016.5:c.135G>A
NM_152419.2:c.1031G>A	NP_689632.2:p.Arg344His
XM_005273409.1:c.1031G>A	XP_005273466.1:p.Arg344His
XM_005273410.1:c.1031G>A	XP_005273467.1:p.Arg344His
XM_005273411.1:c.839G>A	XP_005273468.1:p.Arg280His
XM_005273412.2:c.1031G>A	XP_005273469.1:p.Arg344His
NM_001363227.1:c.1031G>A	NP_001350156.1:p.Arg344His
NM_001363228.1:c.839G>A	NP_001350157.1:p.Arg280His
NM_001363229.1:c.167G>A	NP_001350158.1:p.Arg56His
XM_005273412.4:c.1031G>A	XP_005273469.1:p.Arg344His
NM_152419.3:c.1031G>A MANE Select	NP_689632.2:p.Arg344His
NM_001363227.2:c.1031G>A	NP_001350156.1:p.Arg344His
NM_001363228.2:c.839G>A	NP_001350157.1:p.Arg280His
NM_001363229.2:c.167G>A	NP_001350158.1:p.Arg56His