Canonical Allele Identifier: CA8840755

Gene: HGS

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81695980C>T , CM000679.2:g.81695980C>T	GRCh38
NC_000017.10:g.79663010C>T , CM000679.1:g.79663010C>T	GRCh37
NC_000017.9:g.77273415C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004712.5:c.1374C>T MANE Select	NP_004703.1:p.Asn458=
ENST00000329138.9:c.1374C>T MANE Select	ENSP00000331201.4:p.Asn458=
NM_004712.4:c.1374C>T	NP_004703.1:p.Asn458=
ENST00000329138.8:c.1374C>T	ENSP00000331201.4:p.Asn458=
ENST00000571237.1:c.381C>T	ENSP00000458775.1:p.Asn127=
ENST00000571647.1:n.25C>T
ENST00000571885.1:n.300C>T
ENST00000572392.2:c.1374C>T	ENSP00000458987.2:p.Asn458=
ENST00000676462.1:c.1374C>T	ENSP00000503043.1:p.Asn458=
ENST00000676478.1:c.*883C>T	ENSP00000504482.1:n.*883C>T
ENST00000676546.1:c.1374C>T	ENSP00000504106.1:p.Asn458=
ENST00000676729.1:c.1347C>T	ENSP00000503138.1:p.Asn449=
ENST00000677044.1:c.1374C>T	ENSP00000504151.1:p.Asn458=
ENST00000677109.1:c.1338C>T	ENSP00000503405.1:p.Asn446=
ENST00000677159.1:n.504C>T
ENST00000677161.1:c.1113C>T	ENSP00000503695.1:p.Asn371=
ENST00000677225.1:c.1326C>T	ENSP00000503479.1:p.Asn442=
ENST00000677243.1:c.1374C>T	ENSP00000502851.1:p.Asn458=
ENST00000677484.1:c.1392C>T	ENSP00000503188.1:p.Asn464=
ENST00000678096.1:c.1314C>T	ENSP00000504478.1:p.Asn438=
ENST00000678105.1:c.1173C>T	ENSP00000504789.1:p.Asn391=
ENST00000678115.1:n.1478C>T
ENST00000678142.1:c.274C>T	ENSP00000503319.1:n.274C>T
ENST00000678196.1:c.1374C>T	ENSP00000503545.1:p.Asn458=
ENST00000678387.1:n.1509C>T
ENST00000678428.1:c.61-377C>T	ENSP00000503616.1:n.61-377C>T
ENST00000678541.1:n.1218C>T
ENST00000678658.1:n.1831C>T
ENST00000678846.1:c.1245C>T	ENSP00000503372.1:p.Asn415=
ENST00000678866.1:c.1428C>T	ENSP00000504854.1:p.Asn476=
ENST00000678981.1:c.249C>T	ENSP00000503275.1:p.Asn83=
ENST00000679191.1:c.1326C>T	ENSP00000503211.1:p.Asn442=
ENST00000679275.1:c.*437C>T	ENSP00000504270.1:n.*437C>T
ENST00000679336.1:c.1374C>T	ENSP00000502961.1:p.Asn458=
XM_005257794.2:c.1347C>T	XP_005257851.1:p.Asn449=
XM_011525463.1:c.1374C>T	XP_011523765.1:p.Asn458=
XM_011525463.2:c.1374C>T	XP_011523765.1:p.Asn458=
XM_011525464.1:c.849C>T	XP_011523766.1:p.Asn283=
XM_017025297.1:c.1347C>T	XP_016880786.1:p.Asn449=
XM_017025298.1:c.849C>T	XP_016880787.1:p.Asn283=
XM_024451024.1:c.1173C>T	XP_024306792.1:p.Asn391=
XM_024451025.1:c.1173C>T	XP_024306793.1:p.Asn391=