Canonical Allele Identifier: CA16040900

Gene: HGD

Linked Data

• ClinVar Variation Id: 370545
• ClinVar RCV Id: RCV000410834
• dbSNP Id: rs552207335
• gnomAD v3: 3-120682096-C-T
• gnomAD v4: 3-120682096-C-T
• MyVariant Identifiers: chr3:g.120400943C>T (hg19) ; chr3:g.120682096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120682096C>T , CM000665.2:g.120682096C>T	GRCh38
NC_000003.11:g.120400943C>T , CM000665.1:g.120400943C>T	GRCh37
NC_000003.10:g.121883633C>T	NCBI36
NG_011957.1:g.5386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.15+1G>A MANE Select	ENSP00000283871.5:n.15+1G>A
ENST00000283871.9:c.15+1G>A	ENSP00000283871.5:n.15+1G>A
ENST00000466528.5:n.41+1G>A
ENST00000476082.2:c.-20+1G>A	ENSP00000419560.2:n.-20+1G>A
ENST00000480862.1:n.173+1G>A
ENST00000485313.5:n.35+1G>A
ENST00000488183.5:n.147+1G>A
NM_000187.3:c.15+1G>A	NP_000178.2:n.15+1G>A
XM_005247412.1:c.15+1G>A	XP_005247469.1:n.15+1G>A
XM_005247413.1:c.15+1G>A	XP_005247470.1:n.15+1G>A
XM_005247414.3:c.15+1G>A	XP_005247471.1:n.15+1G>A
XM_011512746.1:c.15+1G>A	XP_011511048.1:n.15+1G>A
XM_005247412.2:c.15+1G>A	XP_005247469.1:n.15+1G>A
XM_005247413.2:c.15+1G>A	XP_005247470.1:n.15+1G>A
XM_005247414.5:c.15+1G>A	XP_005247471.1:n.15+1G>A
XM_011512746.2:c.15+1G>A	XP_011511048.1:n.15+1G>A
XM_017006277.2:c.-497+1G>A	XP_016861766.1:n.-497+1G>A
NM_000187.4:c.15+1G>A MANE Select	NP_000178.2:n.15+1G>A