Canonical Allele Identifier: CA460579515

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43052820C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197677C>G , CM000670.2:g.43197677C>G	GRCh38
NC_000008.10:g.43052820C>G , CM000670.1:g.43052820C>G	GRCh37
NC_000008.9:g.43171977C>G	NCBI36
NG_009552.1:g.62229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1548C>G MANE Select	ENSP00000368965.4:p.Leu516=
ENST00000379644.8:c.1548C>G	ENSP00000368965.4:p.Leu516=
ENST00000519705.1:n.864C>G
ENST00000521576.1:c.699C>G	ENSP00000429029.1:p.Leu233=
ENST00000523989.1:n.1861C>G
NM_152419.2:c.1548C>G	NP_689632.2:p.Leu516=
XM_005273409.1:c.1659C>G	XP_005273466.1:p.Leu553=
XM_005273410.1:c.1635C>G	XP_005273467.1:p.Leu545=
XM_005273411.1:c.1467C>G	XP_005273468.1:p.Leu489=
NM_001363227.1:c.1635C>G	NP_001350156.1:p.Leu545=
NM_001363228.1:c.1356C>G	NP_001350157.1:p.Leu452=
NM_001363229.1:c.684C>G	NP_001350158.1:p.Leu228=
NM_152419.3:c.1548C>G MANE Select	NP_689632.2:p.Leu516=
NM_001363227.2:c.1635C>G	NP_001350156.1:p.Leu545=
NM_001363228.2:c.1356C>G	NP_001350157.1:p.Leu452=
NM_001363229.2:c.684C>G	NP_001350158.1:p.Leu228=