Canonical Allele Identifier: CA435228360

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120369650A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650803A>T , CM000665.2:g.120650803A>T	GRCh38
NC_000003.11:g.120369650A>T , CM000665.1:g.120369650A>T	GRCh37
NC_000003.10:g.121852340A>T	NCBI36
NG_011957.1:g.36679T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.405T>A MANE Select	ENSP00000283871.5:p.Ile135=
ENST00000283871.9:c.405T>A	ENSP00000283871.5:p.Ile135=
ENST00000476082.2:c.282T>A	ENSP00000419560.2:p.Ile94=
ENST00000485313.5:n.513T>A
ENST00000492108.5:c.36T>A	ENSP00000419838.1:p.Ile12=
NM_000187.3:c.405T>A	NP_000178.2:p.Ile135=
XM_005247412.1:c.405T>A	XP_005247469.1:p.Ile135=
XM_005247413.1:c.405T>A	XP_005247470.1:p.Ile135=
XM_005247414.3:c.405T>A	XP_005247471.1:p.Ile135=
XM_011512746.1:c.405T>A	XP_011511048.1:p.Ile135=
XM_005247412.2:c.405T>A	XP_005247469.1:p.Ile135=
XM_005247413.2:c.405T>A	XP_005247470.1:p.Ile135=
XM_005247414.5:c.405T>A	XP_005247471.1:p.Ile135=
XM_011512746.2:c.405T>A	XP_011511048.1:p.Ile135=
XM_017006277.2:c.-19T>A	XP_016861766.1:n.-19T>A
NM_000187.4:c.405T>A MANE Select	NP_000178.2:p.Ile135=