Canonical Allele Identifier: CA16042729

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 373465
• ClinVar RCV Id: RCV000414027 ; RCV001389727
• dbSNP Id: rs954238515
• gnomAD v4: 8-43182234-A-T
• MyVariant Identifiers: chr8:g.43037377A>T (hg19) ; chr8:g.43182234A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182234A>T , CM000670.2:g.43182234A>T	GRCh38
NC_000008.10:g.43037377A>T , CM000670.1:g.43037377A>T	GRCh37
NC_000008.9:g.43156534A>T	NCBI36
NG_009552.1:g.46786A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1102A>T MANE Select	ENSP00000368965.4:p.Lys368Ter
ENST00000379644.8:c.1102A>T	ENSP00000368965.4:p.Lys368Ter
ENST00000519000.1:n.588A>T
ENST00000520678.1:n.35A>T
ENST00000521576.1:c.253A>T	ENSP00000429029.1:p.Lys85Ter
ENST00000522082.5:c.343A>T	ENSP00000430151.1:p.Lys115Ter
ENST00000524016.5:c.206A>T
NM_152419.2:c.1102A>T	NP_689632.2:p.Lys368Ter
XM_005273409.1:c.1102A>T	XP_005273466.1:p.Lys368Ter
XM_005273410.1:c.1102A>T	XP_005273467.1:p.Lys368Ter
XM_005273411.1:c.910A>T	XP_005273468.1:p.Lys304Ter
XM_005273412.2:c.1102A>T	XP_005273469.1:p.Lys368Ter
NM_001363227.1:c.1102A>T	NP_001350156.1:p.Lys368Ter
NM_001363228.1:c.910A>T	NP_001350157.1:p.Lys304Ter
NM_001363229.1:c.238A>T	NP_001350158.1:p.Lys80Ter
XM_005273412.4:c.1102A>T	XP_005273469.1:p.Lys368Ter
NM_152419.3:c.1102A>T MANE Select	NP_689632.2:p.Lys368Ter
NM_001363227.2:c.1102A>T	NP_001350156.1:p.Lys368Ter
NM_001363228.2:c.910A>T	NP_001350157.1:p.Lys304Ter
NM_001363229.2:c.238A>T	NP_001350158.1:p.Lys80Ter