Canonical Allele Identifier: CA371121134

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1247801898
• gnomAD v2: 8-43054558-G-A
• gnomAD v4: 8-43199415-G-A
• MyVariant Identifiers: chr8:g.43054558G>A (hg19) ; chr8:g.43199415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199415G>A , CM000670.2:g.43199415G>A	GRCh38
NC_000008.10:g.43054558G>A , CM000670.1:g.43054558G>A	GRCh37
NC_000008.9:g.43173715G>A	NCBI36
NG_009552.1:g.63967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1754G>A MANE Select	ENSP00000368965.4:p.Gly585Asp
ENST00000379644.8:c.1754G>A	ENSP00000368965.4:p.Gly585Asp
ENST00000519705.1:n.1070G>A
ENST00000521576.1:c.905G>A	ENSP00000429029.1:p.Gly302Asp
NM_152419.2:c.1754G>A	NP_689632.2:p.Gly585Asp
XM_005273409.1:c.1865G>A	XP_005273466.1:p.Gly622Asp
XM_005273410.1:c.1841G>A	XP_005273467.1:p.Gly614Asp
XM_005273411.1:c.1673G>A	XP_005273468.1:p.Gly558Asp
NM_001363227.1:c.1841G>A	NP_001350156.1:p.Gly614Asp
NM_001363228.1:c.1562G>A	NP_001350157.1:p.Gly521Asp
NM_001363229.1:c.890G>A	NP_001350158.1:p.Gly297Asp
NM_152419.3:c.1754G>A MANE Select	NP_689632.2:p.Gly585Asp
NM_001363227.2:c.1841G>A	NP_001350156.1:p.Gly614Asp
NM_001363228.2:c.1562G>A	NP_001350157.1:p.Gly521Asp
NM_001363229.2:c.890G>A	NP_001350158.1:p.Gly297Asp