Canonical Allele Identifier: CA371119808

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 2144698
• ClinVar RCV Id: RCV003071066
• dbSNP Id: rs1460685113
• gnomAD v2: 8-43048900-G-A
• gnomAD v4: 8-43193757-G-A
• MyVariant Identifiers: chr8:g.43048900G>A (hg19) ; chr8:g.43193757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193757G>A , CM000670.2:g.43193757G>A	GRCh38
NC_000008.10:g.43048900G>A , CM000670.1:g.43048900G>A	GRCh37
NC_000008.9:g.43168057G>A	NCBI36
NG_009552.1:g.58309G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1378G>A MANE Select	ENSP00000368965.4:p.Val460Ile
ENST00000379644.8:c.1378G>A	ENSP00000368965.4:p.Val460Ile
ENST00000520678.1:n.311G>A
ENST00000521576.1:c.529G>A	ENSP00000429029.1:p.Val177Ile
ENST00000524016.5:c.482G>A
NM_152419.2:c.1378G>A	NP_689632.2:p.Val460Ile
XM_005273409.1:c.1378G>A	XP_005273466.1:p.Val460Ile
XM_005273410.1:c.1378G>A	XP_005273467.1:p.Val460Ile
XM_005273411.1:c.1186G>A	XP_005273468.1:p.Val396Ile
XM_005273412.2:c.1378G>A	XP_005273469.1:p.Val460Ile
NM_001363227.1:c.1378G>A	NP_001350156.1:p.Val460Ile
NM_001363228.1:c.1186G>A	NP_001350157.1:p.Val396Ile
NM_001363229.1:c.514G>A	NP_001350158.1:p.Val172Ile
XM_005273412.4:c.1378G>A	XP_005273469.1:p.Val460Ile
NM_152419.3:c.1378G>A MANE Select	NP_689632.2:p.Val460Ile
NM_001363227.2:c.1378G>A	NP_001350156.1:p.Val460Ile
NM_001363228.2:c.1186G>A	NP_001350157.1:p.Val396Ile
NM_001363229.2:c.514G>A	NP_001350158.1:p.Val172Ile