Canonical Allele Identifier: CA371120551

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43052869G>A (hg19) ; chr8:g.43197726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197726G>A , CM000670.2:g.43197726G>A	GRCh38
NC_000008.10:g.43052869G>A , CM000670.1:g.43052869G>A	GRCh37
NC_000008.9:g.43172026G>A	NCBI36
NG_009552.1:g.62278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1597G>A MANE Select	ENSP00000368965.4:p.Val533Ile
ENST00000379644.8:c.1597G>A	ENSP00000368965.4:p.Val533Ile
ENST00000519705.1:n.913G>A
ENST00000521576.1:c.748G>A	ENSP00000429029.1:p.Val250Ile
ENST00000523989.1:n.1910G>A
NM_152419.2:c.1597G>A	NP_689632.2:p.Val533Ile
XM_005273409.1:c.1708G>A	XP_005273466.1:p.Val570Ile
XM_005273410.1:c.1684G>A	XP_005273467.1:p.Val562Ile
XM_005273411.1:c.1516G>A	XP_005273468.1:p.Val506Ile
NM_001363227.1:c.1684G>A	NP_001350156.1:p.Val562Ile
NM_001363228.1:c.1405G>A	NP_001350157.1:p.Val469Ile
NM_001363229.1:c.733G>A	NP_001350158.1:p.Val245Ile
NM_152419.3:c.1597G>A MANE Select	NP_689632.2:p.Val533Ile
NM_001363227.2:c.1684G>A	NP_001350156.1:p.Val562Ile
NM_001363228.2:c.1405G>A	NP_001350157.1:p.Val469Ile
NM_001363229.2:c.733G>A	NP_001350158.1:p.Val245Ile