Canonical Allele Identifier: CA1052808105

Gene: HGD

Linked Data

• dbSNP Id: rs1708120568
• gnomAD v3: 3-120675871-T-C
• gnomAD v4: 3-120675871-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675871T>C , CM000665.2:g.120675871T>C	GRCh38
NC_000003.11:g.120394718T>C , CM000665.1:g.120394718T>C	GRCh37
NC_000003.10:g.121877408T>C	NCBI36
NG_011957.1:g.11611A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.16-8A>G MANE Select	ENSP00000283871.5:n.16-8A>G
ENST00000283871.9:c.16-8A>G	ENSP00000283871.5:n.16-8A>G
ENST00000466528.5:n.42-8A>G
ENST00000476082.2:c.-19-8A>G	ENSP00000419560.2:n.-19-8A>G
ENST00000480862.1:n.174-8A>G
ENST00000485313.5:n.124-8A>G
ENST00000488183.5:n.274-8A>G
NM_000187.3:c.16-8A>G	NP_000178.2:n.16-8A>G
XM_005247412.1:c.16-8A>G	XP_005247469.1:n.16-8A>G
XM_005247413.1:c.16-8A>G	XP_005247470.1:n.16-8A>G
XM_005247414.3:c.16-8A>G	XP_005247471.1:n.16-8A>G
XM_011512746.1:c.16-8A>G	XP_011511048.1:n.16-8A>G
XM_005247412.2:c.16-8A>G	XP_005247469.1:n.16-8A>G
XM_005247413.2:c.16-8A>G	XP_005247470.1:n.16-8A>G
XM_005247414.5:c.16-8A>G	XP_005247471.1:n.16-8A>G
XM_011512746.2:c.16-8A>G	XP_011511048.1:n.16-8A>G
XM_017006277.2:c.-408-8A>G	XP_016861766.1:n.-408-8A>G
NM_000187.4:c.16-8A>G MANE Select	NP_000178.2:n.16-8A>G