Canonical Allele Identifier: CA176075942

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1200748
• ClinVar RCV Id: RCV001565867
• dbSNP Id: rs144064738
• gnomAD v2: 8-43052741-A-G
• gnomAD v3: 8-43197598-A-G
• gnomAD v4: 8-43197598-A-G
• MyVariant Identifiers: chr8:g.43052741A>G (hg19) ; chr8:g.43197598A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197598A>G , CM000670.2:g.43197598A>G	GRCh38
NC_000008.10:g.43052741A>G , CM000670.1:g.43052741A>G	GRCh37
NC_000008.9:g.43171898A>G	NCBI36
NG_009552.1:g.62150A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1543-74A>G MANE Select	ENSP00000368965.4:n.1543-74A>G
ENST00000379644.8:c.1543-74A>G	ENSP00000368965.4:n.1543-74A>G
ENST00000519705.1:n.859-74A>G
ENST00000521576.1:c.694-74A>G	ENSP00000429029.1:n.694-74A>G
ENST00000523989.1:n.1782A>G
NM_152419.2:c.1543-74A>G	NP_689632.2:n.1543-74A>G
XM_005273409.1:c.1654-74A>G	XP_005273466.1:n.1654-74A>G
XM_005273410.1:c.1630-74A>G	XP_005273467.1:n.1630-74A>G
XM_005273411.1:c.1462-74A>G	XP_005273468.1:n.1462-74A>G
NM_001363227.1:c.1630-74A>G	NP_001350156.1:n.1630-74A>G
NM_001363228.1:c.1351-74A>G	NP_001350157.1:n.1351-74A>G
NM_001363229.1:c.679-74A>G	NP_001350158.1:n.679-74A>G
NM_152419.3:c.1543-74A>G MANE Select	NP_689632.2:n.1543-74A>G
NM_001363227.2:c.1630-74A>G	NP_001350156.1:n.1630-74A>G
NM_001363228.2:c.1351-74A>G	NP_001350157.1:n.1351-74A>G
NM_001363229.2:c.679-74A>G	NP_001350158.1:n.679-74A>G