Canonical Allele Identifier: CA354081452

Gene: HGD

Linked Data

• dbSNP Id: rs1399370137
• gnomAD v2: 3-120389345-T-C
• gnomAD v4: 3-120670498-T-C
• MyVariant Identifiers: chr3:g.120389345T>C (hg19) ; chr3:g.120670498T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670498T>C , CM000665.2:g.120670498T>C	GRCh38
NC_000003.11:g.120389345T>C , CM000665.1:g.120389345T>C	GRCh37
NC_000003.10:g.121872035T>C	NCBI36
NG_011957.1:g.16984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.211A>G MANE Select	ENSP00000283871.5:p.Lys71Glu
ENST00000283871.9:c.211A>G	ENSP00000283871.5:p.Lys71Glu
ENST00000466528.5:n.237A>G
ENST00000476082.2:c.88A>G	ENSP00000419560.2:p.Lys30Glu
ENST00000485313.5:n.319A>G
ENST00000488183.5:n.469A>G
NM_000187.3:c.211A>G	NP_000178.2:p.Lys71Glu
XM_005247412.1:c.211A>G	XP_005247469.1:p.Lys71Glu
XM_005247413.1:c.211A>G	XP_005247470.1:p.Lys71Glu
XM_005247414.3:c.211A>G	XP_005247471.1:p.Lys71Glu
XM_011512746.1:c.211A>G	XP_011511048.1:p.Lys71Glu
XM_005247412.2:c.211A>G	XP_005247469.1:p.Lys71Glu
XM_005247413.2:c.211A>G	XP_005247470.1:p.Lys71Glu
XM_005247414.5:c.211A>G	XP_005247471.1:p.Lys71Glu
XM_011512746.2:c.211A>G	XP_011511048.1:p.Lys71Glu
XM_017006277.2:c.-213A>G	XP_016861766.1:n.-213A>G
NM_000187.4:c.211A>G MANE Select	NP_000178.2:p.Lys71Glu