Canonical Allele Identifier: CA81786634

Gene: HGD

Linked Data

• ClinVar Variation Id: 2796308
• ClinVar RCV Id: RCV003607728
• dbSNP Id: rs925562365
• gnomAD v4: 3-120646249-C-T
• MyVariant Identifiers: chr3:g.120365096C>T (hg19) ; chr3:g.120646249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646249C>T , CM000665.2:g.120646249C>T	GRCh38
NC_000003.11:g.120365096C>T , CM000665.1:g.120365096C>T	GRCh37
NC_000003.10:g.121847786C>T	NCBI36
NG_011957.1:g.41233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.649+18G>A MANE Select	ENSP00000283871.5:n.649+18G>A
ENST00000283871.9:c.649+18G>A	ENSP00000283871.5:n.649+18G>A
ENST00000475447.2:c.180+18G>A
ENST00000492108.5:c.180+724G>A	ENSP00000419838.1:n.180+724G>A
ENST00000494453.1:c.69+18G>A
NM_000187.3:c.649+18G>A	NP_000178.2:n.649+18G>A
XM_005247412.1:c.549+724G>A	XP_005247469.1:n.549+724G>A
XM_005247413.1:c.649+18G>A	XP_005247470.1:n.649+18G>A
XM_005247414.3:c.649+18G>A	XP_005247471.1:n.649+18G>A
XM_011512746.1:c.649+18G>A	XP_011511048.1:n.649+18G>A
XM_005247412.2:c.549+724G>A	XP_005247469.1:n.549+724G>A
XM_005247413.2:c.649+18G>A	XP_005247470.1:n.649+18G>A
XM_005247414.5:c.649+18G>A	XP_005247471.1:n.649+18G>A
XM_011512746.2:c.649+18G>A	XP_011511048.1:n.649+18G>A
XM_017006277.2:c.226+18G>A	XP_016861766.1:n.226+18G>A
NM_000187.4:c.649+18G>A MANE Select	NP_000178.2:n.649+18G>A