Canonical Allele Identifier: CA8840509

Gene: HGS

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81693920G>T , CM000679.2:g.81693920G>T	GRCh38
NC_000017.10:g.79660950G>T , CM000679.1:g.79660950G>T	GRCh37
NC_000017.9:g.77271355G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004712.5:c.891G>T MANE Select	NP_004703.1:p.Ser297=
ENST00000329138.9:c.891G>T MANE Select	ENSP00000331201.4:p.Ser297=
NM_004712.4:c.891G>T	NP_004703.1:p.Ser297=
ENST00000329138.8:c.891G>T	ENSP00000331201.4:p.Ser297=
ENST00000571237.1:c.51G>T	ENSP00000458775.1:p.Ser17=
ENST00000572392.2:c.891G>T	ENSP00000458987.2:p.Ser297=
ENST00000575058.1:n.129G>T
ENST00000676462.1:c.891G>T	ENSP00000503043.1:p.Ser297=
ENST00000676478.1:c.*400G>T	ENSP00000504482.1:n.*400G>T
ENST00000676546.1:c.891G>T	ENSP00000504106.1:p.Ser297=
ENST00000676727.1:n.51G>T
ENST00000676729.1:c.864G>T	ENSP00000503138.1:p.Ser288=
ENST00000676963.1:c.51G>T	ENSP00000504434.1:p.Ser17=
ENST00000677044.1:c.891G>T	ENSP00000504151.1:p.Ser297=
ENST00000677109.1:c.891G>T	ENSP00000503405.1:p.Ser297=
ENST00000677132.1:c.51G>T	ENSP00000504147.1:p.Ser17=
ENST00000677161.1:c.690G>T	ENSP00000503695.1:p.Ser230=
ENST00000677225.1:c.843G>T	ENSP00000503479.1:p.Ser281=
ENST00000677243.1:c.891G>T	ENSP00000502851.1:p.Ser297=
ENST00000677390.1:c.51G>T	ENSP00000503349.1:p.Ser17=
ENST00000677484.1:c.909G>T	ENSP00000503188.1:p.Ser303=
ENST00000677898.1:n.78G>T
ENST00000678096.1:c.891G>T	ENSP00000504478.1:p.Ser297=
ENST00000678105.1:c.690G>T	ENSP00000504789.1:p.Ser230=
ENST00000678115.1:n.995G>T
ENST00000678196.1:c.891G>T	ENSP00000503545.1:p.Ser297=
ENST00000678387.1:n.1026G>T
ENST00000678478.1:c.144G>T	ENSP00000503600.1:p.Ser48=
ENST00000678541.1:n.746-11G>T
ENST00000678658.1:n.1348G>T
ENST00000678680.1:c.99+168G>T	ENSP00000504409.1:n.99+168G>T
ENST00000678748.1:c.79+339G>T
ENST00000678846.1:c.822G>T	ENSP00000503372.1:p.Ser274=
ENST00000678866.1:c.945G>T	ENSP00000504854.1:p.Ser315=
ENST00000678907.1:c.51G>T	ENSP00000504806.1:p.Ser17=
ENST00000679146.1:c.51G>T	ENSP00000504113.1:p.Ser17=
ENST00000679168.1:c.275G>T	ENSP00000504810.1:n.275G>T
ENST00000679191.1:c.843G>T	ENSP00000503211.1:p.Ser281=
ENST00000679275.1:c.469-11G>T	ENSP00000504270.1:n.469-11G>T
ENST00000679336.1:c.891G>T	ENSP00000502961.1:p.Ser297=
XM_005257794.2:c.864G>T	XP_005257851.1:p.Ser288=
XM_011525463.1:c.891G>T	XP_011523765.1:p.Ser297=
XM_011525463.2:c.891G>T	XP_011523765.1:p.Ser297=
XM_011525464.1:c.366G>T	XP_011523766.1:p.Ser122=
XM_017025297.1:c.864G>T	XP_016880786.1:p.Ser288=
XM_017025298.1:c.366G>T	XP_016880787.1:p.Ser122=
XM_024451024.1:c.690G>T	XP_024306792.1:p.Ser230=
XM_024451025.1:c.690G>T	XP_024306793.1:p.Ser230=