Canonical Allele Identifier: CA8840152

Gene: HGS

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81686994C>T , CM000679.2:g.81686994C>T	GRCh38
NC_000017.10:g.79654024C>T , CM000679.1:g.79654024C>T	GRCh37
NC_000017.9:g.77264429C>T	NCBI36
NG_051248.1:g.1931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329138.9:c.199-9C>T MANE Select	ENSP00000331201.4:n.199-9C>T
ENST00000571518.6:c.160-9C>T
ENST00000572392.2:c.199-9C>T	ENSP00000458987.2:n.199-9C>T
ENST00000676462.1:c.199-9C>T	ENSP00000503043.1:n.199-9C>T
ENST00000676478.1:c.199-9C>T	ENSP00000504482.1:n.199-9C>T
ENST00000676546.1:c.199-9C>T	ENSP00000504106.1:n.199-9C>T
ENST00000676721.1:c.*48-9C>T	ENSP00000504783.1:n.*48-9C>T
ENST00000676729.1:c.172-9C>T	ENSP00000503138.1:n.172-9C>T
ENST00000677012.1:c.203-9C>T	ENSP00000504241.1:n.203-9C>T
ENST00000677044.1:c.199-9C>T	ENSP00000504151.1:n.199-9C>T
ENST00000677109.1:c.199-9C>T	ENSP00000503405.1:n.199-9C>T
ENST00000677161.1:c.-3-9C>T	ENSP00000503695.1:n.-3-9C>T
ENST00000677209.1:c.-3-9C>T	ENSP00000503175.1:n.-3-9C>T
ENST00000677225.1:c.199-9C>T	ENSP00000503479.1:n.199-9C>T
ENST00000677243.1:c.199-9C>T	ENSP00000502851.1:n.199-9C>T
ENST00000677484.1:c.199-9C>T	ENSP00000503188.1:n.199-9C>T
ENST00000678096.1:c.199-9C>T	ENSP00000504478.1:n.199-9C>T
ENST00000678105.1:c.-3-9C>T	ENSP00000504789.1:n.-3-9C>T
ENST00000678115.1:n.303-9C>T
ENST00000678196.1:c.199-9C>T	ENSP00000503545.1:n.199-9C>T
ENST00000678387.1:n.334-9C>T
ENST00000678541.1:n.476-9C>T
ENST00000678658.1:n.656-9C>T
ENST00000678846.1:c.130-9C>T	ENSP00000503372.1:n.130-9C>T
ENST00000678866.1:c.244C>T	ENSP00000504854.1:p.His82Tyr
ENST00000679191.1:c.199-9C>T	ENSP00000503211.1:n.199-9C>T
ENST00000679235.1:n.28-9C>T
ENST00000679275.1:c.199-9C>T	ENSP00000504270.1:n.199-9C>T
ENST00000679336.1:c.199-9C>T	ENSP00000502961.1:n.199-9C>T
ENST00000329138.8:c.199-9C>T	ENSP00000331201.4:n.199-9C>T
ENST00000571518.5:c.-3-9C>T	ENSP00000459685.1:n.-3-9C>T
ENST00000572392.1:c.199-9C>T	ENSP00000458987.1:n.199-9C>T
ENST00000576087.1:n.122-9C>T
ENST00000576393.5:n.283-9C>T
ENST00000576498.5:n.282-9C>T
ENST00000577012.1:c.-3-9C>T	ENSP00000458603.1:n.-3-9C>T
NM_004712.4:c.199-9C>T	NP_004703.1:n.199-9C>T
XM_005257794.2:c.172-9C>T	XP_005257851.1:n.172-9C>T
XM_011525463.1:c.199-9C>T	XP_011523765.1:n.199-9C>T
XM_011525463.2:c.199-9C>T	XP_011523765.1:n.199-9C>T
XM_017025297.1:c.172-9C>T	XP_016880786.1:n.172-9C>T
XM_017025298.1:c.-274-9C>T	XP_016880787.1:n.-274-9C>T
XM_024451024.1:c.-3-9C>T	XP_024306792.1:n.-3-9C>T
XM_024451025.1:c.-3-9C>T	XP_024306793.1:n.-3-9C>T
NM_004712.5:c.199-9C>T MANE Select	NP_004703.1:n.199-9C>T