Canonical Allele Identifier: CA897920566

Gene: HGD

Linked Data

• ClinVar Variation Id: 2901887
• ClinVar RCV Id: RCV003607017
• dbSNP Id: rs1317168020
• gnomAD v3: 3-120650762-T-C
• gnomAD v4: 3-120650762-T-C
• MyVariant Identifiers: chr3:g.120369609T>C (hg19) ; chr3:g.120650762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650762T>C , CM000665.2:g.120650762T>C	GRCh38
NC_000003.11:g.120369609T>C , CM000665.1:g.120369609T>C	GRCh37
NC_000003.10:g.121852299T>C	NCBI36
NG_011957.1:g.36720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.434+12A>G MANE Select	ENSP00000283871.5:n.434+12A>G
ENST00000283871.9:c.434+12A>G	ENSP00000283871.5:n.434+12A>G
ENST00000476082.2:c.311+12A>G	ENSP00000419560.2:n.311+12A>G
ENST00000492108.5:c.65+12A>G	ENSP00000419838.1:n.65+12A>G
NM_000187.3:c.434+12A>G	NP_000178.2:n.434+12A>G
XM_005247412.1:c.434+12A>G	XP_005247469.1:n.434+12A>G
XM_005247413.1:c.434+12A>G	XP_005247470.1:n.434+12A>G
XM_005247414.3:c.434+12A>G	XP_005247471.1:n.434+12A>G
XM_011512746.1:c.434+12A>G	XP_011511048.1:n.434+12A>G
XM_005247412.2:c.434+12A>G	XP_005247469.1:n.434+12A>G
XM_005247413.2:c.434+12A>G	XP_005247470.1:n.434+12A>G
XM_005247414.5:c.434+12A>G	XP_005247471.1:n.434+12A>G
XM_011512746.2:c.434+12A>G	XP_011511048.1:n.434+12A>G
XM_017006277.2:c.11+12A>G	XP_016861766.1:n.11+12A>G
NM_000187.4:c.434+12A>G MANE Select	NP_000178.2:n.434+12A>G