Canonical Allele Identifier: CA371119055

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43191519C>T , CM000670.2:g.43191519C>T	GRCh38
NC_000008.10:g.43046662C>T , CM000670.1:g.43046662C>T	GRCh37
NC_000008.9:g.43165819C>T	NCBI36
NG_009552.1:g.56071C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1174C>T MANE Select	NP_689632.2:p.Gln392Ter
ENST00000379644.9:c.1174C>T MANE Select	ENSP00000368965.4:p.Gln392Ter
NM_001363227.1:c.1174C>T	NP_001350156.1:p.Gln392Ter
NM_001363227.2:c.1174C>T	NP_001350156.1:p.Gln392Ter
NM_001363228.1:c.982C>T	NP_001350157.1:p.Gln328Ter
NM_001363228.2:c.982C>T	NP_001350157.1:p.Gln328Ter
NM_001363229.1:c.310C>T	NP_001350158.1:p.Gln104Ter
NM_001363229.2:c.310C>T	NP_001350158.1:p.Gln104Ter
NM_152419.2:c.1174C>T	NP_689632.2:p.Gln392Ter
ENST00000379644.8:c.1174C>T	ENSP00000368965.4:p.Gln392Ter
ENST00000519000.1:n.660C>T
ENST00000520678.1:n.107C>T
ENST00000521576.1:c.325C>T	ENSP00000429029.1:p.Gln109Ter
ENST00000522082.5:c.482C>T	ENSP00000430151.1:p.Pro161Leu
ENST00000524016.5:c.278C>T
XM_005273409.1:c.1174C>T	XP_005273466.1:p.Gln392Ter
XM_005273410.1:c.1174C>T	XP_005273467.1:p.Gln392Ter
XM_005273411.1:c.982C>T	XP_005273468.1:p.Gln328Ter
XM_005273412.2:c.1174C>T	XP_005273469.1:p.Gln392Ter
XM_005273412.4:c.1174C>T	XP_005273469.1:p.Gln392Ter