Canonical Allele Identifier: CA2560300

Gene: HGD

Linked Data

• dbSNP Id: rs748437340
• ExAC: 3:120389324 C / T
• gnomAD v2: 3-120389324-C-T
• gnomAD v3: 3-120670477-C-T
• gnomAD v4: 3-120670477-C-T
• MyVariant Identifiers: chr3:g.120389324C>T (hg19) ; chr3:g.120670477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670477C>T , CM000665.2:g.120670477C>T	GRCh38
NC_000003.11:g.120389324C>T , CM000665.1:g.120389324C>T	GRCh37
NC_000003.10:g.121872014C>T	NCBI36
NG_011957.1:g.17005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.232G>A MANE Select	ENSP00000283871.5:p.Glu78Lys
ENST00000283871.9:c.232G>A	ENSP00000283871.5:p.Glu78Lys
ENST00000466528.5:n.258G>A
ENST00000476082.2:c.109G>A	ENSP00000419560.2:p.Glu37Lys
ENST00000485313.5:n.340G>A
ENST00000488183.5:n.490G>A
NM_000187.3:c.232G>A	NP_000178.2:p.Glu78Lys
XM_005247412.1:c.232G>A	XP_005247469.1:p.Glu78Lys
XM_005247413.1:c.232G>A	XP_005247470.1:p.Glu78Lys
XM_005247414.3:c.232G>A	XP_005247471.1:p.Glu78Lys
XM_011512746.1:c.232G>A	XP_011511048.1:p.Glu78Lys
XM_005247412.2:c.232G>A	XP_005247469.1:p.Glu78Lys
XM_005247413.2:c.232G>A	XP_005247470.1:p.Glu78Lys
XM_005247414.5:c.232G>A	XP_005247471.1:p.Glu78Lys
XM_011512746.2:c.232G>A	XP_011511048.1:p.Glu78Lys
XM_017006277.2:c.-192G>A	XP_016861766.1:n.-192G>A
NM_000187.4:c.232G>A MANE Select	NP_000178.2:p.Glu78Lys