Canonical Allele Identifier: CA4737042

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 420117
• ClinVar RCV Id: RCV000478941 ; RCV000625332 ; RCV000802522 ; RCV001252520 ; RCV002271509 ; RCV002526563
• dbSNP Id: rs192857413
• ExAC: 8:43054684 A / G
• gnomAD v2: 8-43054684-A-G
• gnomAD v3: 8-43199541-A-G
• gnomAD v4: 8-43199541-A-G
• MyVariant Identifiers: chr8:g.43054684A>G (hg19) ; chr8:g.43199541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199541A>G , CM000670.2:g.43199541A>G	GRCh38
NC_000008.10:g.43054684A>G , CM000670.1:g.43054684A>G	GRCh37
NC_000008.9:g.43173841A>G	NCBI36
NG_009552.1:g.64093A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1880A>G MANE Select	ENSP00000368965.4:p.Tyr627Cys
ENST00000379644.8:c.1880A>G	ENSP00000368965.4:p.Tyr627Cys
ENST00000519705.1:n.1196A>G
ENST00000521576.1:c.1031A>G	ENSP00000429029.1:p.Tyr344Cys
NM_152419.2:c.1880A>G	NP_689632.2:p.Tyr627Cys
XM_005273409.1:c.1991A>G	XP_005273466.1:p.Tyr664Cys
XM_005273410.1:c.1967A>G	XP_005273467.1:p.Tyr656Cys
XM_005273411.1:c.1799A>G	XP_005273468.1:p.Tyr600Cys
NM_001363227.1:c.1967A>G	NP_001350156.1:p.Tyr656Cys
NM_001363228.1:c.1688A>G	NP_001350157.1:p.Tyr563Cys
NM_001363229.1:c.1016A>G	NP_001350158.1:p.Tyr339Cys
NM_152419.3:c.1880A>G MANE Select	NP_689632.2:p.Tyr627Cys
NM_001363227.2:c.1967A>G	NP_001350156.1:p.Tyr656Cys
NM_001363228.2:c.1688A>G	NP_001350157.1:p.Tyr563Cys
NM_001363229.2:c.1016A>G	NP_001350158.1:p.Tyr339Cys