Canonical Allele Identifier: CA371119596

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43192335-T-A
• MyVariant Identifiers: chr8:g.43047478T>A (hg19) ; chr8:g.43192335T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192335T>A , CM000670.2:g.43192335T>A	GRCh38
NC_000008.10:g.43047478T>A , CM000670.1:g.43047478T>A	GRCh37
NC_000008.9:g.43166635T>A	NCBI36
NG_009552.1:g.56887T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1282T>A MANE Select	ENSP00000368965.4:p.Phe428Ile
ENST00000379644.8:c.1282T>A	ENSP00000368965.4:p.Phe428Ile
ENST00000520678.1:n.215T>A
ENST00000521576.1:c.433T>A	ENSP00000429029.1:p.Phe145Ile
ENST00000524016.5:c.386T>A
NM_152419.2:c.1282T>A	NP_689632.2:p.Phe428Ile
XM_005273409.1:c.1282T>A	XP_005273466.1:p.Phe428Ile
XM_005273410.1:c.1282T>A	XP_005273467.1:p.Phe428Ile
XM_005273411.1:c.1090T>A	XP_005273468.1:p.Phe364Ile
XM_005273412.2:c.1282T>A	XP_005273469.1:p.Phe428Ile
NM_001363227.1:c.1282T>A	NP_001350156.1:p.Phe428Ile
NM_001363228.1:c.1090T>A	NP_001350157.1:p.Phe364Ile
NM_001363229.1:c.418T>A	NP_001350158.1:p.Phe140Ile
XM_005273412.4:c.1282T>A	XP_005273469.1:p.Phe428Ile
NM_152419.3:c.1282T>A MANE Select	NP_689632.2:p.Phe428Ile
NM_001363227.2:c.1282T>A	NP_001350156.1:p.Phe428Ile
NM_001363228.2:c.1090T>A	NP_001350157.1:p.Phe364Ile
NM_001363229.2:c.418T>A	NP_001350158.1:p.Phe140Ile