Canonical Allele Identifier: CA371116509

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43173730-C-A
• MyVariant Identifiers: chr8:g.43028873C>A (hg19) ; chr8:g.43173730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173730C>A , CM000670.2:g.43173730C>A	GRCh38
NC_000008.10:g.43028873C>A , CM000670.1:g.43028873C>A	GRCh37
NC_000008.9:g.43148030C>A	NCBI36
NG_009552.1:g.38282C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.838C>A MANE Select	ENSP00000368965.4:p.Leu280Ile
ENST00000379644.8:c.838C>A	ENSP00000368965.4:p.Leu280Ile
ENST00000520704.1:c.*287C>A	ENSP00000429109.1:n.*287C>A
ENST00000522082.5:c.79C>A	ENSP00000430151.1:p.Leu27Ile
NM_152419.2:c.838C>A	NP_689632.2:p.Leu280Ile
XM_005273409.1:c.838C>A	XP_005273466.1:p.Leu280Ile
XM_005273410.1:c.838C>A	XP_005273467.1:p.Leu280Ile
XM_005273411.1:c.820+1344C>A	XP_005273468.1:n.820+1344C>A
XM_005273412.2:c.838C>A	XP_005273469.1:p.Leu280Ile
NM_001363227.1:c.838C>A	NP_001350156.1:p.Leu280Ile
NM_001363228.1:c.820+1344C>A	NP_001350157.1:n.820+1344C>A
NM_001363229.1:c.-14+1344C>A	NP_001350158.1:n.-14+1344C>A
XM_005273412.4:c.838C>A	XP_005273469.1:p.Leu280Ile
NM_152419.3:c.838C>A MANE Select	NP_689632.2:p.Leu280Ile
NM_001363227.2:c.838C>A	NP_001350156.1:p.Leu280Ile
NM_001363228.2:c.820+1344C>A	NP_001350157.1:n.820+1344C>A
NM_001363229.2:c.-14+1344C>A	NP_001350158.1:n.-14+1344C>A