Canonical Allele Identifier: CA354077082

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120647022G>A , CM000665.2:g.120647022G>A	GRCh38
NC_000003.11:g.120365869G>A , CM000665.1:g.120365869G>A	GRCh37
NC_000003.10:g.121848559G>A	NCBI36
NG_011957.1:g.40460C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.500C>T MANE Select	NP_000178.2:p.Thr167Ile
ENST00000283871.10:c.500C>T MANE Select	ENSP00000283871.5:p.Thr167Ile
NM_000187.3:c.500C>T	NP_000178.2:p.Thr167Ile
ENST00000283871.9:c.500C>T	ENSP00000283871.5:p.Thr167Ile
ENST00000475447.2:c.31C>T
ENST00000476082.2:c.377C>T	ENSP00000419560.2:p.Thr126Ile
ENST00000492108.5:c.131C>T	ENSP00000419838.1:p.Thr44Ile
XM_005247412.1:c.500C>T	XP_005247469.1:p.Thr167Ile
XM_005247412.2:c.500C>T	XP_005247469.1:p.Thr167Ile
XM_005247413.1:c.500C>T	XP_005247470.1:p.Thr167Ile
XM_005247413.2:c.500C>T	XP_005247470.1:p.Thr167Ile
XM_005247414.3:c.500C>T	XP_005247471.1:p.Thr167Ile
XM_005247414.5:c.500C>T	XP_005247471.1:p.Thr167Ile
XM_011512746.1:c.500C>T	XP_011511048.1:p.Thr167Ile
XM_011512746.2:c.500C>T	XP_011511048.1:p.Thr167Ile
XM_017006277.2:c.77C>T	XP_016861766.1:p.Thr26Ile