Canonical Allele Identifier: CA4736864

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1550907
• ClinVar RCV Id: RCV002192055
• dbSNP Id: rs376109017
• ExAC: 8:43048880 T / G
• gnomAD v2: 8-43048880-T-G
• gnomAD v3: 8-43193737-T-G
• gnomAD v4: 8-43193737-T-G
• MyVariant Identifiers: chr8:g.43048880T>G (hg19) ; chr8:g.43193737T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193737T>G , CM000670.2:g.43193737T>G	GRCh38
NC_000008.10:g.43048880T>G , CM000670.1:g.43048880T>G	GRCh37
NC_000008.9:g.43168037T>G	NCBI36
NG_009552.1:g.58289T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1378-20T>G MANE Select	ENSP00000368965.4:n.1378-20T>G
ENST00000379644.8:c.1378-20T>G	ENSP00000368965.4:n.1378-20T>G
ENST00000520678.1:n.311-20T>G
ENST00000521576.1:c.529-20T>G	ENSP00000429029.1:n.529-20T>G
ENST00000524016.5:c.482-20T>G
NM_152419.2:c.1378-20T>G	NP_689632.2:n.1378-20T>G
XM_005273409.1:c.1378-20T>G	XP_005273466.1:n.1378-20T>G
XM_005273410.1:c.1378-20T>G	XP_005273467.1:n.1378-20T>G
XM_005273411.1:c.1186-20T>G	XP_005273468.1:n.1186-20T>G
XM_005273412.2:c.1378-20T>G	XP_005273469.1:n.1378-20T>G
NM_001363227.1:c.1378-20T>G	NP_001350156.1:n.1378-20T>G
NM_001363228.1:c.1186-20T>G	NP_001350157.1:n.1186-20T>G
NM_001363229.1:c.514-20T>G	NP_001350158.1:n.514-20T>G
XM_005273412.4:c.1378-20T>G	XP_005273469.1:n.1378-20T>G
NM_152419.3:c.1378-20T>G MANE Select	NP_689632.2:n.1378-20T>G
NM_001363227.2:c.1378-20T>G	NP_001350156.1:n.1378-20T>G
NM_001363228.2:c.1186-20T>G	NP_001350157.1:n.1186-20T>G
NM_001363229.2:c.514-20T>G	NP_001350158.1:n.514-20T>G