Canonical Allele Identifier: CA224186

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 96500
• ClinVar RCV Id: RCV000082652 ; RCV000668206 ; RCV001074721 ; RCV001065437 ; RCV001192639 ; RCV002288581
• dbSNP Id: rs398124544
• ExAC: 8:43046739 G / A
• gnomAD v2: 8-43046739-G-A
• gnomAD v3: 8-43191596-G-A
• gnomAD v4: 8-43191596-G-A
• COSMIC: COSM281691 ; COSM281692
• MyVariant Identifiers: chr8:g.43046739G>A (hg19) ; chr8:g.43191596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43191596G>A , CM000670.2:g.43191596G>A	GRCh38
NC_000008.10:g.43046739G>A , CM000670.1:g.43046739G>A	GRCh37
NC_000008.9:g.43165896G>A	NCBI36
NG_009552.1:g.56148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1250+1G>A MANE Select	ENSP00000368965.4:n.1250+1G>A
ENST00000379644.8:c.1250+1G>A	ENSP00000368965.4:n.1250+1G>A
ENST00000520678.1:n.183+1G>A
ENST00000521576.1:c.401+1G>A	ENSP00000429029.1:n.401+1G>A
ENST00000524016.5:c.354+1G>A
NM_152419.2:c.1250+1G>A	NP_689632.2:n.1250+1G>A
XM_005273409.1:c.1250+1G>A	XP_005273466.1:n.1250+1G>A
XM_005273410.1:c.1250+1G>A	XP_005273467.1:n.1250+1G>A
XM_005273411.1:c.1058+1G>A	XP_005273468.1:n.1058+1G>A
XM_005273412.2:c.1250+1G>A	XP_005273469.1:n.1250+1G>A
NM_001363227.1:c.1250+1G>A	NP_001350156.1:n.1250+1G>A
NM_001363228.1:c.1058+1G>A	NP_001350157.1:n.1058+1G>A
NM_001363229.1:c.386+1G>A	NP_001350158.1:n.386+1G>A
XM_005273412.4:c.1250+1G>A	XP_005273469.1:n.1250+1G>A
NM_152419.3:c.1250+1G>A MANE Select	NP_689632.2:n.1250+1G>A
NM_001363227.2:c.1250+1G>A	NP_001350156.1:n.1250+1G>A
NM_001363228.2:c.1058+1G>A	NP_001350157.1:n.1058+1G>A
NM_001363229.2:c.386+1G>A	NP_001350158.1:n.386+1G>A