Canonical Allele Identifier: CA460579097

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1044047
• ClinVar RCV Id: RCV001348240
• dbSNP Id: rs767972481
• gnomAD v4: 8-43193771-C-A
• COSMIC: COSM3900356 ; COSM3900357
• MyVariant Identifiers: chr8:g.43048914C>A (hg19) ; chr8:g.43193771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193771C>A , CM000670.2:g.43193771C>A	GRCh38
NC_000008.10:g.43048914C>A , CM000670.1:g.43048914C>A	GRCh37
NC_000008.9:g.43168071C>A	NCBI36
NG_009552.1:g.58323C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1392C>A MANE Select	ENSP00000368965.4:p.Thr464=
ENST00000379644.8:c.1392C>A	ENSP00000368965.4:p.Thr464=
ENST00000520678.1:n.325C>A
ENST00000521576.1:c.543C>A	ENSP00000429029.1:p.Thr181=
ENST00000524016.5:c.496C>A
NM_152419.2:c.1392C>A	NP_689632.2:p.Thr464=
XM_005273409.1:c.1392C>A	XP_005273466.1:p.Thr464=
XM_005273410.1:c.1392C>A	XP_005273467.1:p.Thr464=
XM_005273411.1:c.1200C>A	XP_005273468.1:p.Thr400=
XM_005273412.2:c.1392C>A	XP_005273469.1:p.Thr464=
NM_001363227.1:c.1392C>A	NP_001350156.1:p.Thr464=
NM_001363228.1:c.1200C>A	NP_001350157.1:p.Thr400=
NM_001363229.1:c.528C>A	NP_001350158.1:p.Thr176=
XM_005273412.4:c.1392C>A	XP_005273469.1:p.Thr464=
NM_152419.3:c.1392C>A MANE Select	NP_689632.2:p.Thr464=
NM_001363227.2:c.1392C>A	NP_001350156.1:p.Thr464=
NM_001363228.2:c.1200C>A	NP_001350157.1:p.Thr400=
NM_001363229.2:c.528C>A	NP_001350158.1:p.Thr176=