Canonical Allele Identifier: CA4736877

Gene: HGSNAT

Linked Data

• dbSNP Id: rs758100400
• ExAC: 8:43048960 A / G
• gnomAD v2: 8-43048960-A-G
• gnomAD v4: 8-43193817-A-G
• MyVariant Identifiers: chr8:g.43048960A>G (hg19) ; chr8:g.43193817A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193817A>G , CM000670.2:g.43193817A>G	GRCh38
NC_000008.10:g.43048960A>G , CM000670.1:g.43048960A>G	GRCh37
NC_000008.9:g.43168117A>G	NCBI36
NG_009552.1:g.58369A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1438A>G MANE Select	ENSP00000368965.4:p.Ile480Val
ENST00000379644.8:c.1438A>G	ENSP00000368965.4:p.Ile480Val
ENST00000520678.1:n.371A>G
ENST00000521576.1:c.589A>G	ENSP00000429029.1:p.Ile197Val
ENST00000524016.5:c.542A>G
NM_152419.2:c.1438A>G	NP_689632.2:p.Ile480Val
XM_005273409.1:c.1438A>G	XP_005273466.1:p.Ile480Val
XM_005273410.1:c.1438A>G	XP_005273467.1:p.Ile480Val
XM_005273411.1:c.1246A>G	XP_005273468.1:p.Ile416Val
XM_005273412.2:c.1438A>G	XP_005273469.1:p.Ile480Val
NM_001363227.1:c.1438A>G	NP_001350156.1:p.Ile480Val
NM_001363228.1:c.1246A>G	NP_001350157.1:p.Ile416Val
NM_001363229.1:c.574A>G	NP_001350158.1:p.Ile192Val
XM_005273412.4:c.1438A>G	XP_005273469.1:p.Ile480Val
NM_152419.3:c.1438A>G MANE Select	NP_689632.2:p.Ile480Val
NM_001363227.2:c.1438A>G	NP_001350156.1:p.Ile480Val
NM_001363228.2:c.1246A>G	NP_001350157.1:p.Ile416Val
NM_001363229.2:c.574A>G	NP_001350158.1:p.Ile192Val