Canonical Allele Identifier: CA354075570

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644434C>A , CM000665.2:g.120644434C>A	GRCh38
NC_000003.11:g.120363281C>A , CM000665.1:g.120363281C>A	GRCh37
NC_000003.10:g.121845971C>A	NCBI36
NG_011957.1:g.43048G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.659G>T MANE Select	NP_000178.2:p.Gly220Val
ENST00000283871.10:c.659G>T MANE Select	ENSP00000283871.5:p.Gly220Val
NM_000187.3:c.659G>T	NP_000178.2:p.Gly220Val
ENST00000283871.9:c.659G>T	ENSP00000283871.5:p.Gly220Val
ENST00000475447.2:c.202+164G>T
ENST00000492108.5:c.180+2539G>T	ENSP00000419838.1:n.180+2539G>T
ENST00000494453.1:c.79G>T
XM_005247412.1:c.549+2539G>T	XP_005247469.1:n.549+2539G>T
XM_005247412.2:c.549+2539G>T	XP_005247469.1:n.549+2539G>T
XM_005247413.1:c.659G>T	XP_005247470.1:p.Gly220Val
XM_005247413.2:c.659G>T	XP_005247470.1:p.Gly220Val
XM_005247414.5:c.*133G>T	XP_005247471.1:n.*133G>T
XM_011512746.1:c.659G>T	XP_011511048.1:p.Gly220Val
XM_011512746.2:c.659G>T	XP_011511048.1:p.Gly220Val
XM_017006277.2:c.236G>T	XP_016861766.1:p.Gly79Val