Canonical Allele Identifier: CA114861

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1230
• ClinVar RCV Id: RCV000001289 ; RCV000763183 ; RCV000780343 ; RCV002512639
• dbSNP Id: rs193066451
• ExAC: 8:43014188 G / A
• gnomAD v2: 8-43014188-G-A
• gnomAD v3: 8-43159045-G-A
• gnomAD v4: 8-43159045-G-A
• COSMIC: COSM2962184
• MyVariant Identifiers: chr8:g.43014188G>A (hg19) ; chr8:g.43159045G>A (hg38)
• PubMed: PMID:16960811

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43159045G>A , CM000670.2:g.43159045G>A	GRCh38
NC_000008.10:g.43014188G>A , CM000670.1:g.43014188G>A	GRCh37
NC_000008.9:g.43133345G>A	NCBI36
NG_009552.1:g.23597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.493+1G>A MANE Select	ENSP00000368965.4:n.493+1G>A
ENST00000379644.8:c.493+1G>A	ENSP00000368965.4:n.493+1G>A
ENST00000517319.1:c.356+1G>A	ENSP00000430032.1:n.356+1G>A
ENST00000520704.1:c.343+1G>A	ENSP00000429109.1:n.343+1G>A
NM_152419.2:c.493+1G>A	NP_689632.2:n.493+1G>A
XM_005273409.1:c.493+1G>A	XP_005273466.1:n.493+1G>A
XM_005273410.1:c.493+1G>A	XP_005273467.1:n.493+1G>A
XM_005273411.1:c.493+1G>A	XP_005273468.1:n.493+1G>A
XM_005273412.2:c.493+1G>A	XP_005273469.1:n.493+1G>A
NM_001363227.1:c.493+1G>A	NP_001350156.1:n.493+1G>A
NM_001363228.1:c.493+1G>A	NP_001350157.1:n.493+1G>A
NM_001363229.1:c.-341+1G>A	NP_001350158.1:n.-341+1G>A
XM_005273412.4:c.493+1G>A	XP_005273469.1:n.493+1G>A
NM_152419.3:c.493+1G>A MANE Select	NP_689632.2:n.493+1G>A
NM_001363227.2:c.493+1G>A	NP_001350156.1:n.493+1G>A
NM_001363228.2:c.493+1G>A	NP_001350157.1:n.493+1G>A
NM_001363229.2:c.-341+1G>A	NP_001350158.1:n.-341+1G>A