Canonical Allele Identifier: CA371121586

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1986467
• ClinVar RCV Id: RCV002786213
• dbSNP Id: rs772611068
• gnomAD v3: 8-43199500-C-G
• gnomAD v4: 8-43199500-C-G
• MyVariant Identifiers: chr8:g.43054643C>G (hg19) ; chr8:g.43199500C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199500C>G , CM000670.2:g.43199500C>G	GRCh38
NC_000008.10:g.43054643C>G , CM000670.1:g.43054643C>G	GRCh37
NC_000008.9:g.43173800C>G	NCBI36
NG_009552.1:g.64052C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1839C>G MANE Select	ENSP00000368965.4:p.Ile613Met
ENST00000379644.8:c.1839C>G	ENSP00000368965.4:p.Ile613Met
ENST00000519705.1:n.1155C>G
ENST00000521576.1:c.990C>G	ENSP00000429029.1:p.Ile330Met
NM_152419.2:c.1839C>G	NP_689632.2:p.Ile613Met
XM_005273409.1:c.1950C>G	XP_005273466.1:p.Ile650Met
XM_005273410.1:c.1926C>G	XP_005273467.1:p.Ile642Met
XM_005273411.1:c.1758C>G	XP_005273468.1:p.Ile586Met
NM_001363227.1:c.1926C>G	NP_001350156.1:p.Ile642Met
NM_001363228.1:c.1647C>G	NP_001350157.1:p.Ile549Met
NM_001363229.1:c.975C>G	NP_001350158.1:p.Ile325Met
NM_152419.3:c.1839C>G MANE Select	NP_689632.2:p.Ile613Met
NM_001363227.2:c.1926C>G	NP_001350156.1:p.Ile642Met
NM_001363228.2:c.1647C>G	NP_001350157.1:p.Ile549Met
NM_001363229.2:c.975C>G	NP_001350158.1:p.Ile325Met