Canonical Allele Identifier: CA354077401

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120647892C>T , CM000665.2:g.120647892C>T	GRCh38
NC_000003.11:g.120366739C>T , CM000665.1:g.120366739C>T	GRCh37
NC_000003.10:g.121849429C>T	NCBI36
NG_011957.1:g.39590G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.454G>A MANE Select	NP_000178.2:p.Gly152Arg
ENST00000283871.10:c.454G>A MANE Select	ENSP00000283871.5:p.Gly152Arg
NM_000187.3:c.454G>A	NP_000178.2:p.Gly152Arg
ENST00000283871.9:c.454G>A	ENSP00000283871.5:p.Gly152Arg
ENST00000476082.2:c.331G>A	ENSP00000419560.2:p.Gly111Arg
ENST00000492108.5:c.85G>A	ENSP00000419838.1:p.Gly29Arg
XM_005247412.1:c.454G>A	XP_005247469.1:p.Gly152Arg
XM_005247412.2:c.454G>A	XP_005247469.1:p.Gly152Arg
XM_005247413.1:c.454G>A	XP_005247470.1:p.Gly152Arg
XM_005247413.2:c.454G>A	XP_005247470.1:p.Gly152Arg
XM_005247414.3:c.454G>A	XP_005247471.1:p.Gly152Arg
XM_005247414.5:c.454G>A	XP_005247471.1:p.Gly152Arg
XM_011512746.1:c.454G>A	XP_011511048.1:p.Gly152Arg
XM_011512746.2:c.454G>A	XP_011511048.1:p.Gly152Arg
XM_017006277.2:c.31G>A	XP_016861766.1:p.Gly11Arg