Canonical Allele Identifier: CA344905

Gene: HGD

Linked Data

• ClinVar Variation Id: 65577
• ClinVar RCV Id: RCV000055781
• dbSNP Id: rs397515518
• gnomAD v2: 3-120371438-C-T
• gnomAD v3: 3-120652591-C-T
• gnomAD v4: 3-120652591-C-T
• MyVariant Identifiers: chr3:g.120371438C>T (hg19) ; chr3:g.120652591C>T (hg38)
• PubMed: PMID:11017803 ; PMID:20301627

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120652591C>T , CM000665.2:g.120652591C>T	GRCh38
NC_000003.11:g.120371438C>T , CM000665.1:g.120371438C>T	GRCh37
NC_000003.10:g.121854128C>T	NCBI36
NG_011957.1:g.34891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.342+1G>A MANE Select	ENSP00000283871.5:n.342+1G>A
ENST00000283871.9:c.342+1G>A	ENSP00000283871.5:n.342+1G>A
ENST00000476082.2:c.219+1G>A	ENSP00000419560.2:n.219+1G>A
ENST00000485313.5:n.450+1G>A
NM_000187.3:c.342+1G>A	NP_000178.2:n.342+1G>A
XM_005247412.1:c.342+1G>A	XP_005247469.1:n.342+1G>A
XM_005247413.1:c.342+1G>A	XP_005247470.1:n.342+1G>A
XM_005247414.3:c.342+1G>A	XP_005247471.1:n.342+1G>A
XM_011512746.1:c.342+1G>A	XP_011511048.1:n.342+1G>A
XM_005247412.2:c.342+1G>A	XP_005247469.1:n.342+1G>A
XM_005247413.2:c.342+1G>A	XP_005247470.1:n.342+1G>A
XM_005247414.5:c.342+1G>A	XP_005247471.1:n.342+1G>A
XM_011512746.2:c.342+1G>A	XP_011511048.1:n.342+1G>A
XM_017006277.2:c.-82+1G>A	XP_016861766.1:n.-82+1G>A
NM_000187.4:c.342+1G>A MANE Select	NP_000178.2:n.342+1G>A