Canonical Allele Identifier: CA114870

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1236
• ClinVar RCV Id: RCV000001295 ; RCV000586364 ; RCV001067306
• dbSNP Id: rs483352896
• ExAC: 8:43014064 A / G
• gnomAD v2: 8-43014064-A-G
• gnomAD v3: 8-43158921-A-G
• gnomAD v4: 8-43158921-A-G
• MyVariant Identifiers: chr8:g.43014064A>G (hg19) ; chr8:g.43158921A>G (hg38)
• PubMed: PMID:18518886 ; PMID:20825431

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43158921A>G , CM000670.2:g.43158921A>G	GRCh38
NC_000008.10:g.43014064A>G , CM000670.1:g.43014064A>G	GRCh37
NC_000008.9:g.43133221A>G	NCBI36
NG_009552.1:g.23473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.372-2A>G MANE Select	ENSP00000368965.4:n.372-2A>G
ENST00000379644.8:c.372-2A>G	ENSP00000368965.4:n.372-2A>G
ENST00000517319.1:c.235-2A>G	ENSP00000430032.1:n.235-2A>G
ENST00000520704.1:c.222-2A>G	ENSP00000429109.1:n.222-2A>G
NM_152419.2:c.372-2A>G	NP_689632.2:n.372-2A>G
XM_005273409.1:c.372-2A>G	XP_005273466.1:n.372-2A>G
XM_005273410.1:c.372-2A>G	XP_005273467.1:n.372-2A>G
XM_005273411.1:c.372-2A>G	XP_005273468.1:n.372-2A>G
XM_005273412.2:c.372-2A>G	XP_005273469.1:n.372-2A>G
NM_001363227.1:c.372-2A>G	NP_001350156.1:n.372-2A>G
NM_001363228.1:c.372-2A>G	NP_001350157.1:n.372-2A>G
NM_001363229.1:c.-462-2A>G	NP_001350158.1:n.-462-2A>G
XM_005273412.4:c.372-2A>G	XP_005273469.1:n.372-2A>G
NM_152419.3:c.372-2A>G MANE Select	NP_689632.2:n.372-2A>G
NM_001363227.2:c.372-2A>G	NP_001350156.1:n.372-2A>G
NM_001363228.2:c.372-2A>G	NP_001350157.1:n.372-2A>G
NM_001363229.2:c.-462-2A>G	NP_001350158.1:n.-462-2A>G