Canonical Allele Identifier: CA4737024

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1566341
• ClinVar RCV Id: RCV002220340
• dbSNP Id: rs765645520
• ExAC: 8:43054568 G / A
• gnomAD v2: 8-43054568-G-A
• gnomAD v4: 8-43199425-G-A
• MyVariant Identifiers: chr8:g.43054568G>A (hg19) ; chr8:g.43199425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199425G>A , CM000670.2:g.43199425G>A	GRCh38
NC_000008.10:g.43054568G>A , CM000670.1:g.43054568G>A	GRCh37
NC_000008.9:g.43173725G>A	NCBI36
NG_009552.1:g.63977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1764G>A MANE Select	ENSP00000368965.4:p.Val588=
ENST00000379644.8:c.1764G>A	ENSP00000368965.4:p.Val588=
ENST00000519705.1:n.1080G>A
ENST00000521576.1:c.915G>A	ENSP00000429029.1:p.Val305=
NM_152419.2:c.1764G>A	NP_689632.2:p.Val588=
XM_005273409.1:c.1875G>A	XP_005273466.1:p.Val625=
XM_005273410.1:c.1851G>A	XP_005273467.1:p.Val617=
XM_005273411.1:c.1683G>A	XP_005273468.1:p.Val561=
NM_001363227.1:c.1851G>A	NP_001350156.1:p.Val617=
NM_001363228.1:c.1572G>A	NP_001350157.1:p.Val524=
NM_001363229.1:c.900G>A	NP_001350158.1:p.Val300=
NM_152419.3:c.1764G>A MANE Select	NP_689632.2:p.Val588=
NM_001363227.2:c.1851G>A	NP_001350156.1:p.Val617=
NM_001363228.2:c.1572G>A	NP_001350157.1:p.Val524=
NM_001363229.2:c.900G>A	NP_001350158.1:p.Val300=