Canonical Allele Identifier: CA149559

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 96501
• ClinVar RCV Id: RCV000082653 ; RCV000589562 ; RCV000625331 ; RCV001511649 ; RCV001532800
• dbSNP Id: rs17603428
• ExAC: 8:43047593 G / A
• gnomAD v2: 8-43047593-G-A
• gnomAD v3: 8-43192450-G-A
• gnomAD v4: 8-43192450-G-A
• MyVariant Identifiers: chr8:g.43047593G>A (hg19) ; chr8:g.43192450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192450G>A , CM000670.2:g.43192450G>A	GRCh38
NC_000008.10:g.43047593G>A , CM000670.1:g.43047593G>A	GRCh37
NC_000008.9:g.43166750G>A	NCBI36
NG_009552.1:g.57002G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1377+20G>A MANE Select	ENSP00000368965.4:n.1377+20G>A
ENST00000379644.8:c.1377+20G>A	ENSP00000368965.4:n.1377+20G>A
ENST00000520678.1:n.310+20G>A
ENST00000521576.1:c.528+20G>A	ENSP00000429029.1:n.528+20G>A
ENST00000524016.5:c.481+20G>A
NM_152419.2:c.1377+20G>A	NP_689632.2:n.1377+20G>A
XM_005273409.1:c.1377+20G>A	XP_005273466.1:n.1377+20G>A
XM_005273410.1:c.1377+20G>A	XP_005273467.1:n.1377+20G>A
XM_005273411.1:c.1185+20G>A	XP_005273468.1:n.1185+20G>A
XM_005273412.2:c.1377+20G>A	XP_005273469.1:n.1377+20G>A
NM_001363227.1:c.1377+20G>A	NP_001350156.1:n.1377+20G>A
NM_001363228.1:c.1185+20G>A	NP_001350157.1:n.1185+20G>A
NM_001363229.1:c.513+20G>A	NP_001350158.1:n.513+20G>A
XM_005273412.4:c.1377+20G>A	XP_005273469.1:n.1377+20G>A
NM_152419.3:c.1377+20G>A MANE Select	NP_689632.2:n.1377+20G>A
NM_001363227.2:c.1377+20G>A	NP_001350156.1:n.1377+20G>A
NM_001363228.2:c.1185+20G>A	NP_001350157.1:n.1185+20G>A
NM_001363229.2:c.513+20G>A	NP_001350158.1:n.513+20G>A