Canonical Allele Identifier: CA2560007

Gene: HGD

Linked Data

• ClinVar Variation Id: 1410610
• ClinVar RCV Id: RCV001928123 ; RCV002555792
• dbSNP Id: rs762564483
• ExAC: 3:120357341 C / T
• gnomAD v2: 3-120357341-C-T
• gnomAD v3: 3-120638494-C-T
• gnomAD v4: 3-120638494-C-T
• MyVariant Identifiers: chr3:g.120357341C>T (hg19) ; chr3:g.120638494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638494C>T , CM000665.2:g.120638494C>T	GRCh38
NC_000003.11:g.120357341C>T , CM000665.1:g.120357341C>T	GRCh37
NC_000003.10:g.121840031C>T	NCBI36
NG_011957.1:g.48988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.967G>A MANE Select	ENSP00000283871.5:p.Gly323Arg
ENST00000283871.9:c.967G>A	ENSP00000283871.5:p.Gly323Arg
ENST00000470321.1:n.307G>A
ENST00000475447.2:c.307+3095G>A
ENST00000492108.5:c.285+3095G>A	ENSP00000419838.1:n.285+3095G>A
ENST00000494453.1:c.387G>A
NM_000187.3:c.967G>A	NP_000178.2:p.Gly323Arg
XM_005247412.1:c.742G>A	XP_005247469.1:p.Gly248Arg
XM_005247413.1:c.967G>A	XP_005247470.1:p.Gly323Arg
XM_011512746.1:c.879+3095G>A	XP_011511048.1:n.879+3095G>A
XM_005247412.2:c.742G>A	XP_005247469.1:p.Gly248Arg
XM_005247413.2:c.967G>A	XP_005247470.1:p.Gly323Arg
XM_011512746.2:c.879+3095G>A	XP_011511048.1:n.879+3095G>A
XM_017006277.2:c.544G>A	XP_016861766.1:p.Gly182Arg
NM_000187.4:c.967G>A MANE Select	NP_000178.2:p.Gly323Arg