Canonical Allele Identifier: CA581638272

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1379475790
• gnomAD v2: 8-43048907-ACC-A
• gnomAD v3: 8-43193764-ACC-A
• gnomAD v4: 8-43193764-ACC-A
• MyVariant Identifiers: chr8:g.43048908_43048909del (hg19) ; chr8:g.43193765_43193766del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193765_43193766del , CM000670.2:g.43193765_43193766del	GRCh38
NC_000008.10:g.43048908_43048909del , CM000670.1:g.43048908_43048909del	GRCh37
NC_000008.9:g.43168065_43168066del	NCBI36
NG_009552.1:g.58317_58318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1386_1387del MANE Select	ENSP00000368965.4:p.Tyr462Ter
ENST00000379644.8:c.1386_1387del	ENSP00000368965.4:p.Tyr462Ter
ENST00000520678.1:n.319_320del
ENST00000521576.1:c.537_538del	ENSP00000429029.1:p.Tyr179Ter
ENST00000524016.5:c.490_491del
NM_152419.2:c.1386_1387del	NP_689632.2:p.Tyr462Ter
XM_005273409.1:c.1386_1387del	XP_005273466.1:p.Tyr462Ter
XM_005273410.1:c.1386_1387del	XP_005273467.1:p.Tyr462Ter
XM_005273411.1:c.1194_1195del	XP_005273468.1:p.Tyr398Ter
XM_005273412.2:c.1386_1387del	XP_005273469.1:p.Tyr462Ter
NM_001363227.1:c.1386_1387del	NP_001350156.1:p.Tyr462Ter
NM_001363228.1:c.1194_1195del	NP_001350157.1:p.Tyr398Ter
NM_001363229.1:c.522_523del	NP_001350158.1:p.Tyr174Ter
XM_005273412.4:c.1386_1387del	XP_005273469.1:p.Tyr462Ter
NM_152419.3:c.1386_1387del MANE Select	NP_689632.2:p.Tyr462Ter
NM_001363227.2:c.1386_1387del	NP_001350156.1:p.Tyr462Ter
NM_001363228.2:c.1194_1195del	NP_001350157.1:p.Tyr398Ter
NM_001363229.2:c.522_523del	NP_001350158.1:p.Tyr174Ter