Canonical Allele Identifier: CA371118339

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1372086
• ClinVar RCV Id: RCV001872729
• dbSNP Id: rs2130783652
• gnomAD v4: 8-43182165-A-G
• MyVariant Identifiers: chr8:g.43037308A>G (hg19) ; chr8:g.43182165A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182165A>G , CM000670.2:g.43182165A>G	GRCh38
NC_000008.10:g.43037308A>G , CM000670.1:g.43037308A>G	GRCh37
NC_000008.9:g.43156465A>G	NCBI36
NG_009552.1:g.46717A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1033A>G MANE Select	ENSP00000368965.4:p.Ile345Val
ENST00000379644.8:c.1033A>G	ENSP00000368965.4:p.Ile345Val
ENST00000519000.1:n.519A>G
ENST00000521576.1:c.184A>G	ENSP00000429029.1:p.Ile62Val
ENST00000522082.5:c.274A>G	ENSP00000430151.1:p.Ile92Val
ENST00000524016.5:c.137A>G
NM_152419.2:c.1033A>G	NP_689632.2:p.Ile345Val
XM_005273409.1:c.1033A>G	XP_005273466.1:p.Ile345Val
XM_005273410.1:c.1033A>G	XP_005273467.1:p.Ile345Val
XM_005273411.1:c.841A>G	XP_005273468.1:p.Ile281Val
XM_005273412.2:c.1033A>G	XP_005273469.1:p.Ile345Val
NM_001363227.1:c.1033A>G	NP_001350156.1:p.Ile345Val
NM_001363228.1:c.841A>G	NP_001350157.1:p.Ile281Val
NM_001363229.1:c.169A>G	NP_001350158.1:p.Ile57Val
XM_005273412.4:c.1033A>G	XP_005273469.1:p.Ile345Val
NM_152419.3:c.1033A>G MANE Select	NP_689632.2:p.Ile345Val
NM_001363227.2:c.1033A>G	NP_001350156.1:p.Ile345Val
NM_001363228.2:c.841A>G	NP_001350157.1:p.Ile281Val
NM_001363229.2:c.169A>G	NP_001350158.1:p.Ile57Val