Canonical Allele Identifier: CA371116962

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 542424
• ClinVar RCV Id: RCV000652844
• dbSNP Id: rs372933126
• MyVariant Identifiers: chr8:g.43033252C>A (hg19) ; chr8:g.43178109C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43178109C>A , CM000670.2:g.43178109C>A	GRCh38
NC_000008.10:g.43033252C>A , CM000670.1:g.43033252C>A	GRCh37
NC_000008.9:g.43152409C>A	NCBI36
NG_009552.1:g.42661C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.887C>A MANE Select	ENSP00000368965.4:p.Ser296Ter
ENST00000379644.8:c.887C>A	ENSP00000368965.4:p.Ser296Ter
ENST00000522082.5:c.128C>A	ENSP00000430151.1:p.Ser43Ter
NM_152419.2:c.887C>A	NP_689632.2:p.Ser296Ter
XM_005273409.1:c.887C>A	XP_005273466.1:p.Ser296Ter
XM_005273410.1:c.887C>A	XP_005273467.1:p.Ser296Ter
XM_005273411.1:c.821-4036C>A	XP_005273468.1:n.821-4036C>A
XM_005273412.2:c.887C>A	XP_005273469.1:p.Ser296Ter
NM_001363227.1:c.887C>A	NP_001350156.1:p.Ser296Ter
NM_001363228.1:c.821-4036C>A	NP_001350157.1:n.821-4036C>A
NM_001363229.1:c.23C>A	NP_001350158.1:p.Ser8Ter
XM_005273412.4:c.887C>A	XP_005273469.1:p.Ser296Ter
NM_152419.3:c.887C>A MANE Select	NP_689632.2:p.Ser296Ter
NM_001363227.2:c.887C>A	NP_001350156.1:p.Ser296Ter
NM_001363228.2:c.821-4036C>A	NP_001350157.1:n.821-4036C>A
NM_001363229.2:c.23C>A	NP_001350158.1:p.Ser8Ter