Canonical Allele Identifier: CA2560348

Gene: HGD

Linked Data

• dbSNP Id: rs771625523
• ExAC: 3:120393808 A / T
• gnomAD v2: 3-120393808-A-T
• MyVariant Identifiers: chr3:g.120393808A>T (hg19) ; chr3:g.120674961A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674961A>T , CM000665.2:g.120674961A>T	GRCh38
NC_000003.11:g.120393808A>T , CM000665.1:g.120393808A>T	GRCh37
NC_000003.10:g.121876498A>T	NCBI36
NG_011957.1:g.12521T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.116T>A MANE Select	ENSP00000283871.5:p.Leu39His
ENST00000283871.9:c.116T>A	ENSP00000283871.5:p.Leu39His
ENST00000466528.5:n.142T>A
ENST00000476082.2:c.53+831T>A	ENSP00000419560.2:n.53+831T>A
ENST00000480862.1:n.274T>A
ENST00000485313.5:n.224T>A
ENST00000488183.5:n.374T>A
NM_000187.3:c.116T>A	NP_000178.2:p.Leu39His
XM_005247412.1:c.116T>A	XP_005247469.1:p.Leu39His
XM_005247413.1:c.116T>A	XP_005247470.1:p.Leu39His
XM_005247414.3:c.116T>A	XP_005247471.1:p.Leu39His
XM_011512746.1:c.116T>A	XP_011511048.1:p.Leu39His
XM_005247412.2:c.116T>A	XP_005247469.1:p.Leu39His
XM_005247413.2:c.116T>A	XP_005247470.1:p.Leu39His
XM_005247414.5:c.116T>A	XP_005247471.1:p.Leu39His
XM_011512746.2:c.116T>A	XP_011511048.1:p.Leu39His
XM_017006277.2:c.-308T>A	XP_016861766.1:n.-308T>A
NM_000187.4:c.116T>A MANE Select	NP_000178.2:p.Leu39His