Canonical Allele Identifier: CA224187

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 96502
• ClinVar RCV Id: RCV000082654 ; RCV000671662 ; RCV001221115
• dbSNP Id: rs398124545
• ExAC: 8:43048987 G / A
• gnomAD v2: 8-43048987-G-A
• gnomAD v4: 8-43193844-G-A
• MyVariant Identifiers: chr8:g.43048987G>A (hg19) ; chr8:g.43193844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193844G>A , CM000670.2:g.43193844G>A	GRCh38
NC_000008.10:g.43048987G>A , CM000670.1:g.43048987G>A	GRCh37
NC_000008.9:g.43168144G>A	NCBI36
NG_009552.1:g.58396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1464+1G>A MANE Select	ENSP00000368965.4:n.1464+1G>A
ENST00000379644.8:c.1464+1G>A	ENSP00000368965.4:n.1464+1G>A
ENST00000520678.1:n.398G>A
ENST00000521576.1:c.615+1G>A	ENSP00000429029.1:n.615+1G>A
ENST00000524016.5:c.568+1G>A
NM_152419.2:c.1464+1G>A	NP_689632.2:n.1464+1G>A
XM_005273409.1:c.1464+1G>A	XP_005273466.1:n.1464+1G>A
XM_005273410.1:c.1464+1G>A	XP_005273467.1:n.1464+1G>A
XM_005273411.1:c.1272+1G>A	XP_005273468.1:n.1272+1G>A
XM_005273412.2:c.1464+1G>A	XP_005273469.1:n.1464+1G>A
NM_001363227.1:c.1464+1G>A	NP_001350156.1:n.1464+1G>A
NM_001363228.1:c.1272+1G>A	NP_001350157.1:n.1272+1G>A
NM_001363229.1:c.600+1G>A	NP_001350158.1:n.600+1G>A
XM_005273412.4:c.1464+1G>A	XP_005273469.1:n.1464+1G>A
NM_152419.3:c.1464+1G>A MANE Select	NP_689632.2:n.1464+1G>A
NM_001363227.2:c.1464+1G>A	NP_001350156.1:n.1464+1G>A
NM_001363228.2:c.1272+1G>A	NP_001350157.1:n.1272+1G>A
NM_001363229.2:c.600+1G>A	NP_001350158.1:n.600+1G>A