Canonical Allele Identifier: CA851977879

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1414800869
• gnomAD v3: 8-43173651-T-G
• gnomAD v4: 8-43173651-T-G
• MyVariant Identifiers: chr8:g.43028794T>G (hg19) ; chr8:g.43173651T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173651T>G , CM000670.2:g.43173651T>G	GRCh38
NC_000008.10:g.43028794T>G , CM000670.1:g.43028794T>G	GRCh37
NC_000008.9:g.43147951T>G	NCBI36
NG_009552.1:g.38203T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.821-62T>G MANE Select	ENSP00000368965.4:n.821-62T>G
ENST00000379644.8:c.821-62T>G	ENSP00000368965.4:n.821-62T>G
ENST00000520704.1:c.*270-62T>G	ENSP00000429109.1:n.*270-62T>G
ENST00000522082.5:c.62-62T>G	ENSP00000430151.1:n.62-62T>G
NM_152419.2:c.821-62T>G	NP_689632.2:n.821-62T>G
XM_005273409.1:c.821-62T>G	XP_005273466.1:n.821-62T>G
XM_005273410.1:c.821-62T>G	XP_005273467.1:n.821-62T>G
XM_005273411.1:c.820+1265T>G	XP_005273468.1:n.820+1265T>G
XM_005273412.2:c.821-62T>G	XP_005273469.1:n.821-62T>G
NM_001363227.1:c.821-62T>G	NP_001350156.1:n.821-62T>G
NM_001363228.1:c.820+1265T>G	NP_001350157.1:n.820+1265T>G
NM_001363229.1:c.-14+1265T>G	NP_001350158.1:n.-14+1265T>G
XM_005273412.4:c.821-62T>G	XP_005273469.1:n.821-62T>G
NM_152419.3:c.821-62T>G MANE Select	NP_689632.2:n.821-62T>G
NM_001363227.2:c.821-62T>G	NP_001350156.1:n.821-62T>G
NM_001363228.2:c.820+1265T>G	NP_001350157.1:n.820+1265T>G
NM_001363229.2:c.-14+1265T>G	NP_001350158.1:n.-14+1265T>G