Canonical Allele Identifier: CA4736451

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 363140
• ClinVar RCV Id: RCV000263117 ; RCV000514120 ; RCV001514319
• dbSNP Id: rs146429523
• ExAC: 8:43002220 C / G
• gnomAD v2: 8-43002220-C-G
• gnomAD v3: 8-43147077-C-G
• gnomAD v4: 8-43147077-C-G
• MyVariant Identifiers: chr8:g.43002220C>G (hg19) ; chr8:g.43147077C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43147077C>G , CM000670.2:g.43147077C>G	GRCh38
NC_000008.10:g.43002220C>G , CM000670.1:g.43002220C>G	GRCh37
NC_000008.9:g.43121377C>G	NCBI36
NG_009552.1:g.11629C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.234+14C>G MANE Select	ENSP00000368965.4:n.234+14C>G
ENST00000379644.8:c.234+14C>G	ENSP00000368965.4:n.234+14C>G
ENST00000517319.1:c.234+14C>G	ENSP00000430032.1:n.234+14C>G
ENST00000520704.1:c.84+14C>G	ENSP00000429109.1:n.84+14C>G
NM_152419.2:c.234+14C>G	NP_689632.2:n.234+14C>G
XM_005273409.1:c.234+14C>G	XP_005273466.1:n.234+14C>G
XM_005273410.1:c.234+14C>G	XP_005273467.1:n.234+14C>G
XM_005273411.1:c.234+14C>G	XP_005273468.1:n.234+14C>G
XM_005273412.2:c.234+14C>G	XP_005273469.1:n.234+14C>G
NM_001363227.1:c.234+14C>G	NP_001350156.1:n.234+14C>G
NM_001363228.1:c.234+14C>G	NP_001350157.1:n.234+14C>G
NM_001363229.1:c.-600+14C>G	NP_001350158.1:n.-600+14C>G
XM_005273412.4:c.234+14C>G	XP_005273469.1:n.234+14C>G
NM_152419.3:c.234+14C>G MANE Select	NP_689632.2:n.234+14C>G
NM_001363227.2:c.234+14C>G	NP_001350156.1:n.234+14C>G
NM_001363228.2:c.234+14C>G	NP_001350157.1:n.234+14C>G
NM_001363229.2:c.-600+14C>G	NP_001350158.1:n.-600+14C>G