Canonical Allele Identifier: CA10631133

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 363137
• ClinVar RCV Id: RCV000273849 ; RCV000675862 ; RCV001083544 ; RCV001699401 ; RCV003932503
• dbSNP Id: rs886062952
• gnomAD v2: 8-42995747-G-A
• gnomAD v3: 8-43140604-G-A
• gnomAD v4: 8-43140604-G-A
• MyVariant Identifiers: chr8:g.42995747G>A (hg19) ; chr8:g.43140604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43140604G>A , CM000670.2:g.43140604G>A	GRCh38
NC_000008.10:g.42995747G>A , CM000670.1:g.42995747G>A	GRCh37
NC_000008.9:g.43114904G>A	NCBI36
NG_009552.1:g.5156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.108G>A MANE Select	ENSP00000368965.4:p.Ala36=
ENST00000379644.8:c.108G>A	ENSP00000368965.4:p.Ala36=
ENST00000517319.1:c.108G>A	ENSP00000430032.1:p.Ala36=
ENST00000520704.1:c.-43G>A	ENSP00000429109.1:n.-43G>A
NM_152419.2:c.108G>A	NP_689632.2:p.Ala36=
XM_005273409.1:c.108G>A	XP_005273466.1:p.Ala36=
XM_005273410.1:c.108G>A	XP_005273467.1:p.Ala36=
XM_005273411.1:c.108G>A	XP_005273468.1:p.Ala36=
XM_005273412.2:c.108G>A	XP_005273469.1:p.Ala36=
NM_001363227.1:c.108G>A	NP_001350156.1:p.Ala36=
NM_001363228.1:c.108G>A	NP_001350157.1:p.Ala36=
NM_001363229.1:c.-726G>A	NP_001350158.1:n.-726G>A
XM_005273412.4:c.108G>A	XP_005273469.1:p.Ala36=
NM_152419.3:c.108G>A MANE Select	NP_689632.2:p.Ala36=
NM_001363227.2:c.108G>A	NP_001350156.1:p.Ala36=
NM_001363228.2:c.108G>A	NP_001350157.1:p.Ala36=
NM_001363229.2:c.-726G>A	NP_001350158.1:n.-726G>A