Canonical Allele Identifier: CA581633153

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1165264908
• gnomAD v2: 8-42995609-G-A
• gnomAD v3: 8-43140466-G-A
• gnomAD v4: 8-43140466-G-A
• MyVariant Identifiers: chr8:g.42995609G>A (hg19) ; chr8:g.43140466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43140466G>A , CM000670.2:g.43140466G>A	GRCh38
NC_000008.10:g.42995609G>A , CM000670.1:g.42995609G>A	GRCh37
NC_000008.9:g.43114766G>A	NCBI36
NG_009552.1:g.5018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.-31G>A MANE Select	ENSP00000368965.4:n.-31G>A
ENST00000379644.8:c.-31G>A	ENSP00000368965.4:n.-31G>A
NM_152419.2:c.-31G>A	NP_689632.2:n.-31G>A
XM_005273409.1:c.-31G>A	XP_005273466.1:n.-31G>A
XM_005273410.1:c.-31G>A	XP_005273467.1:n.-31G>A
XM_005273411.1:c.-31G>A	XP_005273468.1:n.-31G>A
XM_005273412.2:c.-31G>A	XP_005273469.1:n.-31G>A
NM_001363227.1:c.-31G>A	NP_001350156.1:n.-31G>A
NM_001363228.1:c.-31G>A	NP_001350157.1:n.-31G>A
NM_001363229.1:c.-864G>A	NP_001350158.1:n.-864G>A
XM_005273412.4:c.-31G>A	XP_005273469.1:n.-31G>A
NM_152419.3:c.-31G>A MANE Select	NP_689632.2:n.-31G>A
NM_001363227.2:c.-31G>A	NP_001350156.1:n.-31G>A
NM_001363228.2:c.-31G>A	NP_001350157.1:n.-31G>A
NM_001363229.2:c.-864G>A	NP_001350158.1:n.-864G>A