Canonical Allele Identifier: CA2582342879

Gene: HGD

Linked Data

• ClinVar Variation Id: 2584711
• ClinVar RCV Id: RCV003336679
• gnomAD v4: 3-120646228-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646228A>C , CM000665.2:g.120646228A>C	GRCh38
NC_000003.11:g.120365075A>C , CM000665.1:g.120365075A>C	GRCh37
NC_000003.10:g.121847765A>C	NCBI36
NG_011957.1:g.41254T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.649+39T>G MANE Select	ENSP00000283871.5:n.649+39T>G
ENST00000283871.9:c.649+39T>G	ENSP00000283871.5:n.649+39T>G
ENST00000475447.2:c.180+39T>G
ENST00000492108.5:c.180+745T>G	ENSP00000419838.1:n.180+745T>G
ENST00000494453.1:c.69+39T>G
NM_000187.3:c.649+39T>G	NP_000178.2:n.649+39T>G
XM_005247412.1:c.549+745T>G	XP_005247469.1:n.549+745T>G
XM_005247413.1:c.649+39T>G	XP_005247470.1:n.649+39T>G
XM_005247414.3:c.649+39T>G	XP_005247471.1:n.649+39T>G
XM_011512746.1:c.649+39T>G	XP_011511048.1:n.649+39T>G
XM_005247412.2:c.549+745T>G	XP_005247469.1:n.549+745T>G
XM_005247413.2:c.649+39T>G	XP_005247470.1:n.649+39T>G
XM_005247414.5:c.649+39T>G	XP_005247471.1:n.649+39T>G
XM_011512746.2:c.649+39T>G	XP_011511048.1:n.649+39T>G
XM_017006277.2:c.226+39T>G	XP_016861766.1:n.226+39T>G
NM_000187.4:c.649+39T>G MANE Select	NP_000178.2:n.649+39T>G