Canonical Allele Identifier: CA371116833

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43178072A>G , CM000670.2:g.43178072A>G	GRCh38
NC_000008.10:g.43033215A>G , CM000670.1:g.43033215A>G	GRCh37
NC_000008.9:g.43152372A>G	NCBI36
NG_009552.1:g.42624A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.852-2A>G MANE Select	NP_689632.2:n.852-2A>G
ENST00000379644.9:c.852-2A>G MANE Select	ENSP00000368965.4:n.852-2A>G
NM_001363227.1:c.852-2A>G	NP_001350156.1:n.852-2A>G
NM_001363227.2:c.852-2A>G	NP_001350156.1:n.852-2A>G
NM_001363228.1:c.821-4073A>G	NP_001350157.1:n.821-4073A>G
NM_001363228.2:c.821-4073A>G	NP_001350157.1:n.821-4073A>G
NM_001363229.1:c.-13-2A>G	NP_001350158.1:n.-13-2A>G
NM_001363229.2:c.-13-2A>G	NP_001350158.1:n.-13-2A>G
NM_152419.2:c.852-2A>G	NP_689632.2:n.852-2A>G
ENST00000379644.8:c.852-2A>G	ENSP00000368965.4:n.852-2A>G
ENST00000522082.5:c.93-2A>G	ENSP00000430151.1:n.93-2A>G
XM_005273409.1:c.852-2A>G	XP_005273466.1:n.852-2A>G
XM_005273410.1:c.852-2A>G	XP_005273467.1:n.852-2A>G
XM_005273411.1:c.821-4073A>G	XP_005273468.1:n.821-4073A>G
XM_005273412.2:c.852-2A>G	XP_005273469.1:n.852-2A>G
XM_005273412.4:c.852-2A>G	XP_005273469.1:n.852-2A>G