Canonical Allele Identifier: CA4736880

Gene: HGSNAT

Linked Data

• dbSNP Id: rs768652985
• ExAC: 8:43048964 T / A
• MyVariant Identifiers: chr8:g.43048964T>A (hg19) ; chr8:g.43193821T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193821T>A , CM000670.2:g.43193821T>A	GRCh38
NC_000008.10:g.43048964T>A , CM000670.1:g.43048964T>A	GRCh37
NC_000008.9:g.43168121T>A	NCBI36
NG_009552.1:g.58373T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1442T>A MANE Select	ENSP00000368965.4:p.Val481Glu
ENST00000379644.8:c.1442T>A	ENSP00000368965.4:p.Val481Glu
ENST00000520678.1:n.375T>A
ENST00000521576.1:c.593T>A	ENSP00000429029.1:p.Val198Glu
ENST00000524016.5:c.546T>A
NM_152419.2:c.1442T>A	NP_689632.2:p.Val481Glu
XM_005273409.1:c.1442T>A	XP_005273466.1:p.Val481Glu
XM_005273410.1:c.1442T>A	XP_005273467.1:p.Val481Glu
XM_005273411.1:c.1250T>A	XP_005273468.1:p.Val417Glu
XM_005273412.2:c.1442T>A	XP_005273469.1:p.Val481Glu
NM_001363227.1:c.1442T>A	NP_001350156.1:p.Val481Glu
NM_001363228.1:c.1250T>A	NP_001350157.1:p.Val417Glu
NM_001363229.1:c.578T>A	NP_001350158.1:p.Val193Glu
XM_005273412.4:c.1442T>A	XP_005273469.1:p.Val481Glu
NM_152419.3:c.1442T>A MANE Select	NP_689632.2:p.Val481Glu
NM_001363227.2:c.1442T>A	NP_001350156.1:p.Val481Glu
NM_001363228.2:c.1250T>A	NP_001350157.1:p.Val417Glu
NM_001363229.2:c.578T>A	NP_001350158.1:p.Val193Glu