Canonical Allele Identifier: CA4737022

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199420G>A , CM000670.2:g.43199420G>A	GRCh38
NC_000008.10:g.43054563G>A , CM000670.1:g.43054563G>A	GRCh37
NC_000008.9:g.43173720G>A	NCBI36
NG_009552.1:g.63972G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1759G>A MANE Select	NP_689632.2:p.Glu587Lys
ENST00000379644.9:c.1759G>A MANE Select	ENSP00000368965.4:p.Glu587Lys
NM_001363227.1:c.1846G>A	NP_001350156.1:p.Glu616Lys
NM_001363227.2:c.1846G>A	NP_001350156.1:p.Glu616Lys
NM_001363228.1:c.1567G>A	NP_001350157.1:p.Glu523Lys
NM_001363228.2:c.1567G>A	NP_001350157.1:p.Glu523Lys
NM_001363229.1:c.895G>A	NP_001350158.1:p.Glu299Lys
NM_001363229.2:c.895G>A	NP_001350158.1:p.Glu299Lys
NM_152419.2:c.1759G>A	NP_689632.2:p.Glu587Lys
ENST00000379644.8:c.1759G>A	ENSP00000368965.4:p.Glu587Lys
ENST00000519705.1:n.1075G>A
ENST00000521576.1:c.910G>A	ENSP00000429029.1:p.Glu304Lys
XM_005273409.1:c.1870G>A	XP_005273466.1:p.Glu624Lys
XM_005273410.1:c.1846G>A	XP_005273467.1:p.Glu616Lys
XM_005273411.1:c.1678G>A	XP_005273468.1:p.Glu560Lys