Canonical Allele Identifier: CA371121577

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 910490
• ClinVar RCV Id: RCV001162305 ; RCV001859048
• dbSNP Id: rs1266245327
• gnomAD v3: 8-43199498-A-G
• gnomAD v4: 8-43199498-A-G
• MyVariant Identifiers: chr8:g.43054641A>G (hg19) ; chr8:g.43199498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199498A>G , CM000670.2:g.43199498A>G	GRCh38
NC_000008.10:g.43054641A>G , CM000670.1:g.43054641A>G	GRCh37
NC_000008.9:g.43173798A>G	NCBI36
NG_009552.1:g.64050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1837A>G MANE Select	ENSP00000368965.4:p.Ile613Val
ENST00000379644.8:c.1837A>G	ENSP00000368965.4:p.Ile613Val
ENST00000519705.1:n.1153A>G
ENST00000521576.1:c.988A>G	ENSP00000429029.1:p.Ile330Val
NM_152419.2:c.1837A>G	NP_689632.2:p.Ile613Val
XM_005273409.1:c.1948A>G	XP_005273466.1:p.Ile650Val
XM_005273410.1:c.1924A>G	XP_005273467.1:p.Ile642Val
XM_005273411.1:c.1756A>G	XP_005273468.1:p.Ile586Val
NM_001363227.1:c.1924A>G	NP_001350156.1:p.Ile642Val
NM_001363228.1:c.1645A>G	NP_001350157.1:p.Ile549Val
NM_001363229.1:c.973A>G	NP_001350158.1:p.Ile325Val
NM_152419.3:c.1837A>G MANE Select	NP_689632.2:p.Ile613Val
NM_001363227.2:c.1924A>G	NP_001350156.1:p.Ile642Val
NM_001363228.2:c.1645A>G	NP_001350157.1:p.Ile549Val
NM_001363229.2:c.973A>G	NP_001350158.1:p.Ile325Val