Canonical Allele Identifier: CA354078788

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120652645A>G , CM000665.2:g.120652645A>G	GRCh38
NC_000003.11:g.120371492A>G , CM000665.1:g.120371492A>G	GRCh37
NC_000003.10:g.121854182A>G	NCBI36
NG_011957.1:g.34837T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.289T>C MANE Select	NP_000178.2:p.Trp97Arg
ENST00000283871.10:c.289T>C MANE Select	ENSP00000283871.5:p.Trp97Arg
NM_000187.3:c.289T>C	NP_000178.2:p.Trp97Arg
ENST00000283871.9:c.289T>C	ENSP00000283871.5:p.Trp97Arg
ENST00000476082.2:c.166T>C	ENSP00000419560.2:p.Trp56Arg
ENST00000485313.5:n.397T>C
ENST00000488183.5:n.542T>C
XM_005247412.1:c.289T>C	XP_005247469.1:p.Trp97Arg
XM_005247412.2:c.289T>C	XP_005247469.1:p.Trp97Arg
XM_005247413.1:c.289T>C	XP_005247470.1:p.Trp97Arg
XM_005247413.2:c.289T>C	XP_005247470.1:p.Trp97Arg
XM_005247414.3:c.289T>C	XP_005247471.1:p.Trp97Arg
XM_005247414.5:c.289T>C	XP_005247471.1:p.Trp97Arg
XM_011512746.1:c.289T>C	XP_011511048.1:p.Trp97Arg
XM_011512746.2:c.289T>C	XP_011511048.1:p.Trp97Arg
XM_017006277.2:c.-135T>C	XP_016861766.1:n.-135T>C