Canonical Allele Identifier: CA371121280

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43199442-C-A
• MyVariant Identifiers: chr8:g.43054585C>A (hg19) ; chr8:g.43199442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199442C>A , CM000670.2:g.43199442C>A	GRCh38
NC_000008.10:g.43054585C>A , CM000670.1:g.43054585C>A	GRCh37
NC_000008.9:g.43173742C>A	NCBI36
NG_009552.1:g.63994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1781C>A MANE Select	ENSP00000368965.4:p.Pro594His
ENST00000379644.8:c.1781C>A	ENSP00000368965.4:p.Pro594His
ENST00000519705.1:n.1097C>A
ENST00000521576.1:c.932C>A	ENSP00000429029.1:p.Pro311His
NM_152419.2:c.1781C>A	NP_689632.2:p.Pro594His
XM_005273409.1:c.1892C>A	XP_005273466.1:p.Pro631His
XM_005273410.1:c.1868C>A	XP_005273467.1:p.Pro623His
XM_005273411.1:c.1700C>A	XP_005273468.1:p.Pro567His
NM_001363227.1:c.1868C>A	NP_001350156.1:p.Pro623His
NM_001363228.1:c.1589C>A	NP_001350157.1:p.Pro530His
NM_001363229.1:c.917C>A	NP_001350158.1:p.Pro306His
NM_152419.3:c.1781C>A MANE Select	NP_689632.2:p.Pro594His
NM_001363227.2:c.1868C>A	NP_001350156.1:p.Pro623His
NM_001363228.2:c.1589C>A	NP_001350157.1:p.Pro530His
NM_001363229.2:c.917C>A	NP_001350158.1:p.Pro306His