Canonical Allele Identifier: CA176074434

Gene: HGSNAT

Linked Data

• dbSNP Id: rs764276794
• gnomAD v2: 8-43048768-AT-A
• gnomAD v3: 8-43193625-AT-A
• gnomAD v4: 8-43193625-AT-A
• MyVariant Identifiers: chr8:g.43048769del (hg19) ; chr8:g.43193626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193626del , CM000670.2:g.43193626del	GRCh38
NC_000008.10:g.43048769del , CM000670.1:g.43048769del	GRCh37
NC_000008.9:g.43167926del	NCBI36
NG_009552.1:g.58178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1378-131del MANE Select	ENSP00000368965.4:n.1378-131del
ENST00000379644.8:c.1378-131del	ENSP00000368965.4:n.1378-131del
ENST00000520678.1:n.311-131del
ENST00000521576.1:c.529-131del	ENSP00000429029.1:n.529-131del
ENST00000524016.5:c.482-131del
NM_152419.2:c.1378-131del	NP_689632.2:n.1378-131del
XM_005273409.1:c.1378-131del	XP_005273466.1:n.1378-131del
XM_005273410.1:c.1378-131del	XP_005273467.1:n.1378-131del
XM_005273411.1:c.1186-131del	XP_005273468.1:n.1186-131del
XM_005273412.2:c.1378-131del	XP_005273469.1:n.1378-131del
NM_001363227.1:c.1378-131del	NP_001350156.1:n.1378-131del
NM_001363228.1:c.1186-131del	NP_001350157.1:n.1186-131del
NM_001363229.1:c.514-131del	NP_001350158.1:n.514-131del
XM_005273412.4:c.1378-131del	XP_005273469.1:n.1378-131del
NM_152419.3:c.1378-131del MANE Select	NP_689632.2:n.1378-131del
NM_001363227.2:c.1378-131del	NP_001350156.1:n.1378-131del
NM_001363228.2:c.1186-131del	NP_001350157.1:n.1186-131del
NM_001363229.2:c.514-131del	NP_001350158.1:n.514-131del