Canonical Allele Identifier: CA2560236

Gene: HGD

Linked Data

• ClinVar Variation Id: 1661444
• ClinVar RCV Id: RCV002176626
• dbSNP Id: rs753344566
• ExAC: 3:120369718 A / T
• gnomAD v2: 3-120369718-A-T
• gnomAD v3: 3-120650871-A-T
• gnomAD v4: 3-120650871-A-T
• MyVariant Identifiers: chr3:g.120369718A>T (hg19) ; chr3:g.120650871A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650871A>T , CM000665.2:g.120650871A>T	GRCh38
NC_000003.11:g.120369718A>T , CM000665.1:g.120369718A>T	GRCh37
NC_000003.10:g.121852408A>T	NCBI36
NG_011957.1:g.36611T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.343-6T>A MANE Select	ENSP00000283871.5:n.343-6T>A
ENST00000283871.9:c.343-6T>A	ENSP00000283871.5:n.343-6T>A
ENST00000476082.2:c.220-6T>A	ENSP00000419560.2:n.220-6T>A
ENST00000485313.5:n.451-6T>A
NM_000187.3:c.343-6T>A	NP_000178.2:n.343-6T>A
XM_005247412.1:c.343-6T>A	XP_005247469.1:n.343-6T>A
XM_005247413.1:c.343-6T>A	XP_005247470.1:n.343-6T>A
XM_005247414.3:c.343-6T>A	XP_005247471.1:n.343-6T>A
XM_011512746.1:c.343-6T>A	XP_011511048.1:n.343-6T>A
XM_005247412.2:c.343-6T>A	XP_005247469.1:n.343-6T>A
XM_005247413.2:c.343-6T>A	XP_005247470.1:n.343-6T>A
XM_005247414.5:c.343-6T>A	XP_005247471.1:n.343-6T>A
XM_011512746.2:c.343-6T>A	XP_011511048.1:n.343-6T>A
XM_017006277.2:c.-81-6T>A	XP_016861766.1:n.-81-6T>A
NM_000187.4:c.343-6T>A MANE Select	NP_000178.2:n.343-6T>A