Canonical Allele Identifier: CA4737019

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 2519908
• ClinVar RCV Id: RCV003284503
• dbSNP Id: rs550696803
• ExAC: 8:43054554 G / A
• gnomAD v2: 8-43054554-G-A
• gnomAD v3: 8-43199411-G-A
• gnomAD v4: 8-43199411-G-A
• MyVariant Identifiers: chr8:g.43054554G>A (hg19) ; chr8:g.43199411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199411G>A , CM000670.2:g.43199411G>A	GRCh38
NC_000008.10:g.43054554G>A , CM000670.1:g.43054554G>A	GRCh37
NC_000008.9:g.43173711G>A	NCBI36
NG_009552.1:g.63963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1750G>A MANE Select	ENSP00000368965.4:p.Val584Ile
ENST00000379644.8:c.1750G>A	ENSP00000368965.4:p.Val584Ile
ENST00000519705.1:n.1066G>A
ENST00000521576.1:c.901G>A	ENSP00000429029.1:p.Val301Ile
NM_152419.2:c.1750G>A	NP_689632.2:p.Val584Ile
XM_005273409.1:c.1861G>A	XP_005273466.1:p.Val621Ile
XM_005273410.1:c.1837G>A	XP_005273467.1:p.Val613Ile
XM_005273411.1:c.1669G>A	XP_005273468.1:p.Val557Ile
NM_001363227.1:c.1837G>A	NP_001350156.1:p.Val613Ile
NM_001363228.1:c.1558G>A	NP_001350157.1:p.Val520Ile
NM_001363229.1:c.886G>A	NP_001350158.1:p.Val296Ile
NM_152419.3:c.1750G>A MANE Select	NP_689632.2:p.Val584Ile
NM_001363227.2:c.1837G>A	NP_001350156.1:p.Val613Ile
NM_001363228.2:c.1558G>A	NP_001350157.1:p.Val520Ile
NM_001363229.2:c.886G>A	NP_001350158.1:p.Val296Ile