Canonical Allele Identifier: CA10627894

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 363138
• ClinVar RCV Id: RCV000312412 ; RCV002523684
• dbSNP Id: rs886062953
• gnomAD v3: 8-43140607-G-A
• gnomAD v4: 8-43140607-G-A
• MyVariant Identifiers: chr8:g.42995750G>A (hg19) ; chr8:g.43140607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43140607G>A , CM000670.2:g.43140607G>A	GRCh38
NC_000008.10:g.42995750G>A , CM000670.1:g.42995750G>A	GRCh37
NC_000008.9:g.43114907G>A	NCBI36
NG_009552.1:g.5159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.111G>A MANE Select	ENSP00000368965.4:p.Pro37=
ENST00000379644.8:c.111G>A	ENSP00000368965.4:p.Pro37=
ENST00000517319.1:c.111G>A	ENSP00000430032.1:p.Pro37=
ENST00000520704.1:c.-40G>A	ENSP00000429109.1:n.-40G>A
NM_152419.2:c.111G>A	NP_689632.2:p.Pro37=
XM_005273409.1:c.111G>A	XP_005273466.1:p.Pro37=
XM_005273410.1:c.111G>A	XP_005273467.1:p.Pro37=
XM_005273411.1:c.111G>A	XP_005273468.1:p.Pro37=
XM_005273412.2:c.111G>A	XP_005273469.1:p.Pro37=
NM_001363227.1:c.111G>A	NP_001350156.1:p.Pro37=
NM_001363228.1:c.111G>A	NP_001350157.1:p.Pro37=
NM_001363229.1:c.-723G>A	NP_001350158.1:n.-723G>A
XM_005273412.4:c.111G>A	XP_005273469.1:p.Pro37=
NM_152419.3:c.111G>A MANE Select	NP_689632.2:p.Pro37=
NM_001363227.2:c.111G>A	NP_001350156.1:p.Pro37=
NM_001363228.2:c.111G>A	NP_001350157.1:p.Pro37=
NM_001363229.2:c.-723G>A	NP_001350158.1:n.-723G>A