Canonical Allele Identifier: CA180116

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199501G>A , CM000670.2:g.43199501G>A	GRCh38
NC_000008.10:g.43054644G>A , CM000670.1:g.43054644G>A	GRCh37
NC_000008.9:g.43173801G>A	NCBI36
NG_009552.1:g.64053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1840G>A MANE Select	ENSP00000368965.4:p.Val614Ile
ENST00000379644.8:c.1840G>A	ENSP00000368965.4:p.Val614Ile
ENST00000519705.1:n.1156G>A
ENST00000521576.1:c.991G>A	ENSP00000429029.1:p.Val331Ile
NM_152419.2:c.1840G>A	NP_689632.2:p.Val614Ile
XM_005273409.1:c.1951G>A	XP_005273466.1:p.Val651Ile
XM_005273410.1:c.1927G>A	XP_005273467.1:p.Val643Ile
XM_005273411.1:c.1759G>A	XP_005273468.1:p.Val587Ile
NM_001363227.1:c.1927G>A	NP_001350156.1:p.Val643Ile
NM_001363228.1:c.1648G>A	NP_001350157.1:p.Val550Ile
NM_001363229.1:c.976G>A	NP_001350158.1:p.Val326Ile
NM_152419.3:c.1840G>A MANE Select	NP_689632.2:p.Val614Ile
NM_001363227.2:c.1927G>A	NP_001350156.1:p.Val643Ile
NM_001363228.2:c.1648G>A	NP_001350157.1:p.Val550Ile
NM_001363229.2:c.976G>A	NP_001350158.1:p.Val326Ile