Canonical Allele Identifier: CA4736492

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 363143
• ClinVar RCV Id: RCV000266373 ; RCV003766091
• dbSNP Id: rs372920077
• ExAC: 8:43013869 T / A
• gnomAD v2: 8-43013869-T-A
• gnomAD v3: 8-43158726-T-A
• gnomAD v4: 8-43158726-T-A
• MyVariant Identifiers: chr8:g.43013869T>A (hg19) ; chr8:g.43158726T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43158726T>A , CM000670.2:g.43158726T>A	GRCh38
NC_000008.10:g.43013869T>A , CM000670.1:g.43013869T>A	GRCh37
NC_000008.9:g.43133026T>A	NCBI36
NG_009552.1:g.23278T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.371+15T>A MANE Select	ENSP00000368965.4:n.371+15T>A
ENST00000379644.8:c.371+15T>A	ENSP00000368965.4:n.371+15T>A
ENST00000517319.1:c.235-197T>A	ENSP00000430032.1:n.235-197T>A
ENST00000520704.1:c.221+15T>A	ENSP00000429109.1:n.221+15T>A
NM_152419.2:c.371+15T>A	NP_689632.2:n.371+15T>A
XM_005273409.1:c.371+15T>A	XP_005273466.1:n.371+15T>A
XM_005273410.1:c.371+15T>A	XP_005273467.1:n.371+15T>A
XM_005273411.1:c.371+15T>A	XP_005273468.1:n.371+15T>A
XM_005273412.2:c.371+15T>A	XP_005273469.1:n.371+15T>A
NM_001363227.1:c.371+15T>A	NP_001350156.1:n.371+15T>A
NM_001363228.1:c.371+15T>A	NP_001350157.1:n.371+15T>A
NM_001363229.1:c.-463+15T>A	NP_001350158.1:n.-463+15T>A
XM_005273412.4:c.371+15T>A	XP_005273469.1:n.371+15T>A
NM_152419.3:c.371+15T>A MANE Select	NP_689632.2:n.371+15T>A
NM_001363227.2:c.371+15T>A	NP_001350156.1:n.371+15T>A
NM_001363228.2:c.371+15T>A	NP_001350157.1:n.371+15T>A
NM_001363229.2:c.-463+15T>A	NP_001350158.1:n.-463+15T>A