Canonical Allele Identifier: CA16040896

Gene: HGD

Linked Data

• ClinVar Variation Id: 370411
• ClinVar RCV Id: RCV000409762
• dbSNP Id: rs1057516467
• gnomAD v4: 3-120670530-C-T
• MyVariant Identifiers: chr3:g.120389377C>T (hg19) ; chr3:g.120670530C>T (hg38)
• PubMed: PMID:23430897

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670530C>T , CM000665.2:g.120670530C>T	GRCh38
NC_000003.11:g.120389377C>T , CM000665.1:g.120389377C>T	GRCh37
NC_000003.10:g.121872067C>T	NCBI36
NG_011957.1:g.16952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.179G>A MANE Select	ENSP00000283871.5:p.Trp60Ter
ENST00000283871.9:c.179G>A	ENSP00000283871.5:p.Trp60Ter
ENST00000466528.5:n.205G>A
ENST00000476082.2:c.56G>A	ENSP00000419560.2:p.Trp19Ter
ENST00000485313.5:n.287G>A
ENST00000488183.5:n.437G>A
NM_000187.3:c.179G>A	NP_000178.2:p.Trp60Ter
XM_005247412.1:c.179G>A	XP_005247469.1:p.Trp60Ter
XM_005247413.1:c.179G>A	XP_005247470.1:p.Trp60Ter
XM_005247414.3:c.179G>A	XP_005247471.1:p.Trp60Ter
XM_011512746.1:c.179G>A	XP_011511048.1:p.Trp60Ter
XM_005247412.2:c.179G>A	XP_005247469.1:p.Trp60Ter
XM_005247413.2:c.179G>A	XP_005247470.1:p.Trp60Ter
XM_005247414.5:c.179G>A	XP_005247471.1:p.Trp60Ter
XM_011512746.2:c.179G>A	XP_011511048.1:p.Trp60Ter
XM_017006277.2:c.-245G>A	XP_016861766.1:n.-245G>A
NM_000187.4:c.179G>A MANE Select	NP_000178.2:p.Trp60Ter