Canonical Allele Identifier: CA340044

Gene: HGD

Linked Data

• ClinVar Variation Id: 3168
• ClinVar RCV Id: RCV000003318 ; RCV001725928
• dbSNP Id: rs28941783
• ExAC: 3:120365888 C / T
• gnomAD v2: 3-120365888-C-T
• gnomAD v3: 3-120647041-C-T
• gnomAD v4: 3-120647041-C-T
• MyVariant Identifiers: chr3:g.120365888C>T (hg19) ; chr3:g.120647041C>T (hg38)
• PubMed: PMID:9154114 ; PMID:10482952 ; PMID:10970188 ; PMID:12051967 ; PMID:20301627

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120647041C>T , CM000665.2:g.120647041C>T	GRCh38
NC_000003.11:g.120365888C>T , CM000665.1:g.120365888C>T	GRCh37
NC_000003.10:g.121848578C>T	NCBI36
NG_011957.1:g.40441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.481G>A MANE Select	ENSP00000283871.5:p.Gly161Arg
ENST00000283871.9:c.481G>A	ENSP00000283871.5:p.Gly161Arg
ENST00000475447.2:c.12G>A
ENST00000476082.2:c.358G>A	ENSP00000419560.2:p.Gly120Arg
ENST00000492108.5:c.112G>A	ENSP00000419838.1:p.Gly38Arg
NM_000187.3:c.481G>A	NP_000178.2:p.Gly161Arg
XM_005247412.1:c.481G>A	XP_005247469.1:p.Gly161Arg
XM_005247413.1:c.481G>A	XP_005247470.1:p.Gly161Arg
XM_005247414.3:c.481G>A	XP_005247471.1:p.Gly161Arg
XM_011512746.1:c.481G>A	XP_011511048.1:p.Gly161Arg
XM_005247412.2:c.481G>A	XP_005247469.1:p.Gly161Arg
XM_005247413.2:c.481G>A	XP_005247470.1:p.Gly161Arg
XM_005247414.5:c.481G>A	XP_005247471.1:p.Gly161Arg
XM_011512746.2:c.481G>A	XP_011511048.1:p.Gly161Arg
XM_017006277.2:c.58G>A	XP_016861766.1:p.Gly20Arg
NM_000187.4:c.481G>A MANE Select	NP_000178.2:p.Gly161Arg