Canonical Allele Identifier: CA4736837

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 802403
• ClinVar RCV Id: RCV000988057 ; RCV002549698 ; RCV002549699
• dbSNP Id: rs371469177
• ExAC: 8:43047493 A / G
• gnomAD v2: 8-43047493-A-G
• gnomAD v3: 8-43192350-A-G
• gnomAD v4: 8-43192350-A-G
• MyVariant Identifiers: chr8:g.43047493A>G (hg19) ; chr8:g.43192350A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192350A>G , CM000670.2:g.43192350A>G	GRCh38
NC_000008.10:g.43047493A>G , CM000670.1:g.43047493A>G	GRCh37
NC_000008.9:g.43166650A>G	NCBI36
NG_009552.1:g.56902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1297A>G MANE Select	ENSP00000368965.4:p.Asn433Asp
ENST00000379644.8:c.1297A>G	ENSP00000368965.4:p.Asn433Asp
ENST00000520678.1:n.230A>G
ENST00000521576.1:c.448A>G	ENSP00000429029.1:p.Asn150Asp
ENST00000524016.5:c.401A>G
NM_152419.2:c.1297A>G	NP_689632.2:p.Asn433Asp
XM_005273409.1:c.1297A>G	XP_005273466.1:p.Asn433Asp
XM_005273410.1:c.1297A>G	XP_005273467.1:p.Asn433Asp
XM_005273411.1:c.1105A>G	XP_005273468.1:p.Asn369Asp
XM_005273412.2:c.1297A>G	XP_005273469.1:p.Asn433Asp
NM_001363227.1:c.1297A>G	NP_001350156.1:p.Asn433Asp
NM_001363228.1:c.1105A>G	NP_001350157.1:p.Asn369Asp
NM_001363229.1:c.433A>G	NP_001350158.1:p.Asn145Asp
XM_005273412.4:c.1297A>G	XP_005273469.1:p.Asn433Asp
NM_152419.3:c.1297A>G MANE Select	NP_689632.2:p.Asn433Asp
NM_001363227.2:c.1297A>G	NP_001350156.1:p.Asn433Asp
NM_001363228.2:c.1105A>G	NP_001350157.1:p.Asn369Asp
NM_001363229.2:c.433A>G	NP_001350158.1:p.Asn145Asp