Canonical Allele Identifier: CA129492

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 30832
• ClinVar RCV Id: RCV000023817 ; RCV000153361 ; RCV000652843 ; RCV001074236 ; RCV001192638
• dbSNP Id: rs483352908
• ExAC: 8:43002207 G / A
• gnomAD v2: 8-43002207-G-A
• gnomAD v3: 8-43147064-G-A
• gnomAD v4: 8-43147064-G-A
• MyVariant Identifiers: chr8:g.43002207G>A (hg19) ; chr8:g.43147064G>A (hg38)
• PubMed: PMID:20825431 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43147064G>A , CM000670.2:g.43147064G>A	GRCh38
NC_000008.10:g.43002207G>A , CM000670.1:g.43002207G>A	GRCh37
NC_000008.9:g.43121364G>A	NCBI36
NG_009552.1:g.11616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.234+1G>A MANE Select	ENSP00000368965.4:n.234+1G>A
ENST00000379644.8:c.234+1G>A	ENSP00000368965.4:n.234+1G>A
ENST00000517319.1:c.234+1G>A	ENSP00000430032.1:n.234+1G>A
ENST00000520704.1:c.84+1G>A	ENSP00000429109.1:n.84+1G>A
NM_152419.2:c.234+1G>A	NP_689632.2:n.234+1G>A
XM_005273409.1:c.234+1G>A	XP_005273466.1:n.234+1G>A
XM_005273410.1:c.234+1G>A	XP_005273467.1:n.234+1G>A
XM_005273411.1:c.234+1G>A	XP_005273468.1:n.234+1G>A
XM_005273412.2:c.234+1G>A	XP_005273469.1:n.234+1G>A
NM_001363227.1:c.234+1G>A	NP_001350156.1:n.234+1G>A
NM_001363228.1:c.234+1G>A	NP_001350157.1:n.234+1G>A
NM_001363229.1:c.-600+1G>A	NP_001350158.1:n.-600+1G>A
XM_005273412.4:c.234+1G>A	XP_005273469.1:n.234+1G>A
NM_152419.3:c.234+1G>A MANE Select	NP_689632.2:n.234+1G>A
NM_001363227.2:c.234+1G>A	NP_001350156.1:n.234+1G>A
NM_001363228.2:c.234+1G>A	NP_001350157.1:n.234+1G>A
NM_001363229.2:c.-600+1G>A	NP_001350158.1:n.-600+1G>A