Canonical Allele Identifier: CA2560306

Gene: HGD

Linked Data

• ClinVar Variation Id: 710691
• ClinVar RCV Id: RCV000882319 ; RCV003225134
• dbSNP Id: rs141965690
• ExAC: 3:120389335 T / A
• gnomAD v2: 3-120389335-T-A
• gnomAD v3: 3-120670488-T-A
• gnomAD v4: 3-120670488-T-A
• MyVariant Identifiers: chr3:g.120389335T>A (hg19) ; chr3:g.120670488T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670488T>A , CM000665.2:g.120670488T>A	GRCh38
NC_000003.11:g.120389335T>A , CM000665.1:g.120389335T>A	GRCh37
NC_000003.10:g.121872025T>A	NCBI36
NG_011957.1:g.16994A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.221A>T MANE Select	ENSP00000283871.5:p.Glu74Val
ENST00000283871.9:c.221A>T	ENSP00000283871.5:p.Glu74Val
ENST00000466528.5:n.247A>T
ENST00000476082.2:c.98A>T	ENSP00000419560.2:p.Glu33Val
ENST00000485313.5:n.329A>T
ENST00000488183.5:n.479A>T
NM_000187.3:c.221A>T	NP_000178.2:p.Glu74Val
XM_005247412.1:c.221A>T	XP_005247469.1:p.Glu74Val
XM_005247413.1:c.221A>T	XP_005247470.1:p.Glu74Val
XM_005247414.3:c.221A>T	XP_005247471.1:p.Glu74Val
XM_011512746.1:c.221A>T	XP_011511048.1:p.Glu74Val
XM_005247412.2:c.221A>T	XP_005247469.1:p.Glu74Val
XM_005247413.2:c.221A>T	XP_005247470.1:p.Glu74Val
XM_005247414.5:c.221A>T	XP_005247471.1:p.Glu74Val
XM_011512746.2:c.221A>T	XP_011511048.1:p.Glu74Val
XM_017006277.2:c.-203A>T	XP_016861766.1:n.-203A>T
NM_000187.4:c.221A>T MANE Select	NP_000178.2:p.Glu74Val