Canonical Allele Identifier: CA2560366

Gene: HGD

Linked Data

• dbSNP Id: rs748473452
• ExAC: 3:120394592 C / T
• gnomAD v2: 3-120394592-C-T
• gnomAD v3: 3-120675745-C-T
• gnomAD v4: 3-120675745-C-T
• MyVariant Identifiers: chr3:g.120394592C>T (hg19) ; chr3:g.120675745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675745C>T , CM000665.2:g.120675745C>T	GRCh38
NC_000003.11:g.120394592C>T , CM000665.1:g.120394592C>T	GRCh37
NC_000003.10:g.121877282C>T	NCBI36
NG_011957.1:g.11737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.87+47G>A MANE Select	ENSP00000283871.5:n.87+47G>A
ENST00000283871.9:c.87+47G>A	ENSP00000283871.5:n.87+47G>A
ENST00000466528.5:n.113+47G>A
ENST00000476082.2:c.53+47G>A	ENSP00000419560.2:n.53+47G>A
ENST00000480862.1:n.245+47G>A
ENST00000485313.5:n.195+47G>A
ENST00000488183.5:n.345+47G>A
NM_000187.3:c.87+47G>A	NP_000178.2:n.87+47G>A
XM_005247412.1:c.87+47G>A	XP_005247469.1:n.87+47G>A
XM_005247413.1:c.87+47G>A	XP_005247470.1:n.87+47G>A
XM_005247414.3:c.87+47G>A	XP_005247471.1:n.87+47G>A
XM_011512746.1:c.87+47G>A	XP_011511048.1:n.87+47G>A
XM_005247412.2:c.87+47G>A	XP_005247469.1:n.87+47G>A
XM_005247413.2:c.87+47G>A	XP_005247470.1:n.87+47G>A
XM_005247414.5:c.87+47G>A	XP_005247471.1:n.87+47G>A
XM_011512746.2:c.87+47G>A	XP_011511048.1:n.87+47G>A
XM_017006277.2:c.-337+47G>A	XP_016861766.1:n.-337+47G>A
NM_000187.4:c.87+47G>A MANE Select	NP_000178.2:n.87+47G>A