Canonical Allele Identifier: CA371119819

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1396963169
• gnomAD v2: 8-43048904-T-G
• gnomAD v4: 8-43193761-T-G
• MyVariant Identifiers: chr8:g.43048904T>G (hg19) ; chr8:g.43193761T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193761T>G , CM000670.2:g.43193761T>G	GRCh38
NC_000008.10:g.43048904T>G , CM000670.1:g.43048904T>G	GRCh37
NC_000008.9:g.43168061T>G	NCBI36
NG_009552.1:g.58313T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1382T>G MANE Select	ENSP00000368965.4:p.Leu461Arg
ENST00000379644.8:c.1382T>G	ENSP00000368965.4:p.Leu461Arg
ENST00000520678.1:n.315T>G
ENST00000521576.1:c.533T>G	ENSP00000429029.1:p.Leu178Arg
ENST00000524016.5:c.486T>G
NM_152419.2:c.1382T>G	NP_689632.2:p.Leu461Arg
XM_005273409.1:c.1382T>G	XP_005273466.1:p.Leu461Arg
XM_005273410.1:c.1382T>G	XP_005273467.1:p.Leu461Arg
XM_005273411.1:c.1190T>G	XP_005273468.1:p.Leu397Arg
XM_005273412.2:c.1382T>G	XP_005273469.1:p.Leu461Arg
NM_001363227.1:c.1382T>G	NP_001350156.1:p.Leu461Arg
NM_001363228.1:c.1190T>G	NP_001350157.1:p.Leu397Arg
NM_001363229.1:c.518T>G	NP_001350158.1:p.Leu173Arg
XM_005273412.4:c.1382T>G	XP_005273469.1:p.Leu461Arg
NM_152419.3:c.1382T>G MANE Select	NP_689632.2:p.Leu461Arg
NM_001363227.2:c.1382T>G	NP_001350156.1:p.Leu461Arg
NM_001363228.2:c.1190T>G	NP_001350157.1:p.Leu397Arg
NM_001363229.2:c.518T>G	NP_001350158.1:p.Leu173Arg