Canonical Allele Identifier: CA460578203

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 794901
• ClinVar RCV Id: RCV001503301
• dbSNP Id: rs1586751999
• MyVariant Identifiers: chr8:g.43047471T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192328T>C , CM000670.2:g.43192328T>C	GRCh38
NC_000008.10:g.43047471T>C , CM000670.1:g.43047471T>C	GRCh37
NC_000008.9:g.43166628T>C	NCBI36
NG_009552.1:g.56880T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1275T>C MANE Select	ENSP00000368965.4:p.Ile425=
ENST00000379644.8:c.1275T>C	ENSP00000368965.4:p.Ile425=
ENST00000520678.1:n.208T>C
ENST00000521576.1:c.426T>C	ENSP00000429029.1:p.Ile142=
ENST00000524016.5:c.379T>C
NM_152419.2:c.1275T>C	NP_689632.2:p.Ile425=
XM_005273409.1:c.1275T>C	XP_005273466.1:p.Ile425=
XM_005273410.1:c.1275T>C	XP_005273467.1:p.Ile425=
XM_005273411.1:c.1083T>C	XP_005273468.1:p.Ile361=
XM_005273412.2:c.1275T>C	XP_005273469.1:p.Ile425=
NM_001363227.1:c.1275T>C	NP_001350156.1:p.Ile425=
NM_001363228.1:c.1083T>C	NP_001350157.1:p.Ile361=
NM_001363229.1:c.411T>C	NP_001350158.1:p.Ile137=
XM_005273412.4:c.1275T>C	XP_005273469.1:p.Ile425=
NM_152419.3:c.1275T>C MANE Select	NP_689632.2:p.Ile425=
NM_001363227.2:c.1275T>C	NP_001350156.1:p.Ile425=
NM_001363228.2:c.1083T>C	NP_001350157.1:p.Ile361=
NM_001363229.2:c.411T>C	NP_001350158.1:p.Ile137=