Canonical Allele Identifier: CA851970588

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1383818347
• gnomAD v3: 8-43193569-A-C
• gnomAD v4: 8-43193569-A-C
• MyVariant Identifiers: chr8:g.43048712A>C (hg19) ; chr8:g.43193569A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193569A>C , CM000670.2:g.43193569A>C	GRCh38
NC_000008.10:g.43048712A>C , CM000670.1:g.43048712A>C	GRCh37
NC_000008.9:g.43167869A>C	NCBI36
NG_009552.1:g.58121A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1378-188A>C MANE Select	ENSP00000368965.4:n.1378-188A>C
ENST00000379644.8:c.1378-188A>C	ENSP00000368965.4:n.1378-188A>C
ENST00000520678.1:n.311-188A>C
ENST00000521576.1:c.529-188A>C	ENSP00000429029.1:n.529-188A>C
ENST00000524016.5:c.482-188A>C
NM_152419.2:c.1378-188A>C	NP_689632.2:n.1378-188A>C
XM_005273409.1:c.1378-188A>C	XP_005273466.1:n.1378-188A>C
XM_005273410.1:c.1378-188A>C	XP_005273467.1:n.1378-188A>C
XM_005273411.1:c.1186-188A>C	XP_005273468.1:n.1186-188A>C
XM_005273412.2:c.1378-188A>C	XP_005273469.1:n.1378-188A>C
NM_001363227.1:c.1378-188A>C	NP_001350156.1:n.1378-188A>C
NM_001363228.1:c.1186-188A>C	NP_001350157.1:n.1186-188A>C
NM_001363229.1:c.514-188A>C	NP_001350158.1:n.514-188A>C
XM_005273412.4:c.1378-188A>C	XP_005273469.1:n.1378-188A>C
NM_152419.3:c.1378-188A>C MANE Select	NP_689632.2:n.1378-188A>C
NM_001363227.2:c.1378-188A>C	NP_001350156.1:n.1378-188A>C
NM_001363228.2:c.1186-188A>C	NP_001350157.1:n.1186-188A>C
NM_001363229.2:c.514-188A>C	NP_001350158.1:n.514-188A>C