Canonical Allele Identifier: CA4736882

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1398922
• ClinVar RCV Id: RCV001893660
• dbSNP Id: rs773361163
• ExAC: 8:43048978 G / A
• gnomAD v2: 8-43048978-G-A
• gnomAD v3: 8-43193835-G-A
• gnomAD v4: 8-43193835-G-A
• MyVariant Identifiers: chr8:g.43048978G>A (hg19) ; chr8:g.43193835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193835G>A , CM000670.2:g.43193835G>A	GRCh38
NC_000008.10:g.43048978G>A , CM000670.1:g.43048978G>A	GRCh37
NC_000008.9:g.43168135G>A	NCBI36
NG_009552.1:g.58387G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1456G>A MANE Select	ENSP00000368965.4:p.Gly486Arg
ENST00000379644.8:c.1456G>A	ENSP00000368965.4:p.Gly486Arg
ENST00000520678.1:n.389G>A
ENST00000521576.1:c.607G>A	ENSP00000429029.1:p.Gly203Arg
ENST00000524016.5:c.560G>A
NM_152419.2:c.1456G>A	NP_689632.2:p.Gly486Arg
XM_005273409.1:c.1456G>A	XP_005273466.1:p.Gly486Arg
XM_005273410.1:c.1456G>A	XP_005273467.1:p.Gly486Arg
XM_005273411.1:c.1264G>A	XP_005273468.1:p.Gly422Arg
XM_005273412.2:c.1456G>A	XP_005273469.1:p.Gly486Arg
NM_001363227.1:c.1456G>A	NP_001350156.1:p.Gly486Arg
NM_001363228.1:c.1264G>A	NP_001350157.1:p.Gly422Arg
NM_001363229.1:c.592G>A	NP_001350158.1:p.Gly198Arg
XM_005273412.4:c.1456G>A	XP_005273469.1:p.Gly486Arg
NM_152419.3:c.1456G>A MANE Select	NP_689632.2:p.Gly486Arg
NM_001363227.2:c.1456G>A	NP_001350156.1:p.Gly486Arg
NM_001363228.2:c.1264G>A	NP_001350157.1:p.Gly422Arg
NM_001363229.2:c.592G>A	NP_001350158.1:p.Gly198Arg