Canonical Allele Identifier: CA371119546

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 2106439
• ClinVar RCV Id: RCV003026474
• dbSNP Id: rs1804564462
• MyVariant Identifiers: chr8:g.43047452A>G (hg19) ; chr8:g.43192309A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192309A>G , CM000670.2:g.43192309A>G	GRCh38
NC_000008.10:g.43047452A>G , CM000670.1:g.43047452A>G	GRCh37
NC_000008.9:g.43166609A>G	NCBI36
NG_009552.1:g.56861A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1256A>G MANE Select	ENSP00000368965.4:p.Tyr419Cys
ENST00000379644.8:c.1256A>G	ENSP00000368965.4:p.Tyr419Cys
ENST00000520678.1:n.189A>G
ENST00000521576.1:c.407A>G	ENSP00000429029.1:p.Tyr136Cys
ENST00000524016.5:c.360A>G
NM_152419.2:c.1256A>G	NP_689632.2:p.Tyr419Cys
XM_005273409.1:c.1256A>G	XP_005273466.1:p.Tyr419Cys
XM_005273410.1:c.1256A>G	XP_005273467.1:p.Tyr419Cys
XM_005273411.1:c.1064A>G	XP_005273468.1:p.Tyr355Cys
XM_005273412.2:c.1256A>G	XP_005273469.1:p.Tyr419Cys
NM_001363227.1:c.1256A>G	NP_001350156.1:p.Tyr419Cys
NM_001363228.1:c.1064A>G	NP_001350157.1:p.Tyr355Cys
NM_001363229.1:c.392A>G	NP_001350158.1:p.Tyr131Cys
XM_005273412.4:c.1256A>G	XP_005273469.1:p.Tyr419Cys
NM_152419.3:c.1256A>G MANE Select	NP_689632.2:p.Tyr419Cys
NM_001363227.2:c.1256A>G	NP_001350156.1:p.Tyr419Cys
NM_001363228.2:c.1064A>G	NP_001350157.1:p.Tyr355Cys
NM_001363229.2:c.392A>G	NP_001350158.1:p.Tyr131Cys