Canonical Allele Identifier: CA460580557

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 2936617
• ClinVar RCV Id: RCV003798855
• gnomAD v4: 8-43199407-A-G
• MyVariant Identifiers: chr8:g.43054550A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199407A>G , CM000670.2:g.43199407A>G	GRCh38
NC_000008.10:g.43054550A>G , CM000670.1:g.43054550A>G	GRCh37
NC_000008.9:g.43173707A>G	NCBI36
NG_009552.1:g.63959A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1746A>G MANE Select	ENSP00000368965.4:p.Val582=
ENST00000379644.8:c.1746A>G	ENSP00000368965.4:p.Val582=
ENST00000519705.1:n.1062A>G
ENST00000521576.1:c.897A>G	ENSP00000429029.1:p.Val299=
NM_152419.2:c.1746A>G	NP_689632.2:p.Val582=
XM_005273409.1:c.1857A>G	XP_005273466.1:p.Val619=
XM_005273410.1:c.1833A>G	XP_005273467.1:p.Val611=
XM_005273411.1:c.1665A>G	XP_005273468.1:p.Val555=
NM_001363227.1:c.1833A>G	NP_001350156.1:p.Val611=
NM_001363228.1:c.1554A>G	NP_001350157.1:p.Val518=
NM_001363229.1:c.882A>G	NP_001350158.1:p.Val294=
NM_152419.3:c.1746A>G MANE Select	NP_689632.2:p.Val582=
NM_001363227.2:c.1833A>G	NP_001350156.1:p.Val611=
NM_001363228.2:c.1554A>G	NP_001350157.1:p.Val518=
NM_001363229.2:c.882A>G	NP_001350158.1:p.Val294=