Canonical Allele Identifier: CA371116515

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1045476
• ClinVar RCV Id: RCV001349893 ; RCV001831152
• dbSNP Id: rs1287447019
• gnomAD v2: 8-43028876-G-A
• gnomAD v4: 8-43173733-G-A
• MyVariant Identifiers: chr8:g.43028876G>A (hg19) ; chr8:g.43173733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173733G>A , CM000670.2:g.43173733G>A	GRCh38
NC_000008.10:g.43028876G>A , CM000670.1:g.43028876G>A	GRCh37
NC_000008.9:g.43148033G>A	NCBI36
NG_009552.1:g.38285G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.841G>A MANE Select	ENSP00000368965.4:p.Val281Met
ENST00000379644.8:c.841G>A	ENSP00000368965.4:p.Val281Met
ENST00000520704.1:c.*290G>A	ENSP00000429109.1:n.*290G>A
ENST00000522082.5:c.82G>A	ENSP00000430151.1:p.Val28Met
NM_152419.2:c.841G>A	NP_689632.2:p.Val281Met
XM_005273409.1:c.841G>A	XP_005273466.1:p.Val281Met
XM_005273410.1:c.841G>A	XP_005273467.1:p.Val281Met
XM_005273411.1:c.820+1347G>A	XP_005273468.1:n.820+1347G>A
XM_005273412.2:c.841G>A	XP_005273469.1:p.Val281Met
NM_001363227.1:c.841G>A	NP_001350156.1:p.Val281Met
NM_001363228.1:c.820+1347G>A	NP_001350157.1:n.820+1347G>A
NM_001363229.1:c.-14+1347G>A	NP_001350158.1:n.-14+1347G>A
XM_005273412.4:c.841G>A	XP_005273469.1:p.Val281Met
NM_152419.3:c.841G>A MANE Select	NP_689632.2:p.Val281Met
NM_001363227.2:c.841G>A	NP_001350156.1:p.Val281Met
NM_001363228.2:c.820+1347G>A	NP_001350157.1:n.820+1347G>A
NM_001363229.2:c.-14+1347G>A	NP_001350158.1:n.-14+1347G>A