Canonical Allele Identifier: CA81786590

Gene: HGD

Linked Data

• dbSNP Id: rs948424552
• gnomAD v4: 3-120646193-G-A
• MyVariant Identifiers: chr3:g.120365040G>A (hg19) ; chr3:g.120646193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646193G>A , CM000665.2:g.120646193G>A	GRCh38
NC_000003.11:g.120365040G>A , CM000665.1:g.120365040G>A	GRCh37
NC_000003.10:g.121847730G>A	NCBI36
NG_011957.1:g.41289C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.649+74C>T MANE Select	ENSP00000283871.5:n.649+74C>T
ENST00000283871.9:c.649+74C>T	ENSP00000283871.5:n.649+74C>T
ENST00000475447.2:c.180+74C>T
ENST00000492108.5:c.180+780C>T	ENSP00000419838.1:n.180+780C>T
ENST00000494453.1:c.69+74C>T
NM_000187.3:c.649+74C>T	NP_000178.2:n.649+74C>T
XM_005247412.1:c.549+780C>T	XP_005247469.1:n.549+780C>T
XM_005247413.1:c.649+74C>T	XP_005247470.1:n.649+74C>T
XM_005247414.3:c.649+74C>T	XP_005247471.1:n.649+74C>T
XM_011512746.1:c.649+74C>T	XP_011511048.1:n.649+74C>T
XM_005247412.2:c.549+780C>T	XP_005247469.1:n.549+780C>T
XM_005247413.2:c.649+74C>T	XP_005247470.1:n.649+74C>T
XM_005247414.5:c.649+74C>T	XP_005247471.1:n.649+74C>T
XM_011512746.2:c.649+74C>T	XP_011511048.1:n.649+74C>T
XM_017006277.2:c.226+74C>T	XP_016861766.1:n.226+74C>T
NM_000187.4:c.649+74C>T MANE Select	NP_000178.2:n.649+74C>T