Canonical Allele Identifier: CA1052834089

Gene: HGD

Linked Data

• dbSNP Id: rs1708114337
• gnomAD v3: 3-120675700-A-G
• gnomAD v4: 3-120675700-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675700A>G , CM000665.2:g.120675700A>G	GRCh38
NC_000003.11:g.120394547A>G , CM000665.1:g.120394547A>G	GRCh37
NC_000003.10:g.121877237A>G	NCBI36
NG_011957.1:g.11782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.87+92T>C MANE Select	ENSP00000283871.5:n.87+92T>C
ENST00000283871.9:c.87+92T>C	ENSP00000283871.5:n.87+92T>C
ENST00000466528.5:n.113+92T>C
ENST00000476082.2:c.53+92T>C	ENSP00000419560.2:n.53+92T>C
ENST00000480862.1:n.245+92T>C
ENST00000485313.5:n.195+92T>C
ENST00000488183.5:n.345+92T>C
NM_000187.3:c.87+92T>C	NP_000178.2:n.87+92T>C
XM_005247412.1:c.87+92T>C	XP_005247469.1:n.87+92T>C
XM_005247413.1:c.87+92T>C	XP_005247470.1:n.87+92T>C
XM_005247414.3:c.87+92T>C	XP_005247471.1:n.87+92T>C
XM_011512746.1:c.87+92T>C	XP_011511048.1:n.87+92T>C
XM_005247412.2:c.87+92T>C	XP_005247469.1:n.87+92T>C
XM_005247413.2:c.87+92T>C	XP_005247470.1:n.87+92T>C
XM_005247414.5:c.87+92T>C	XP_005247471.1:n.87+92T>C
XM_011512746.2:c.87+92T>C	XP_011511048.1:n.87+92T>C
XM_017006277.2:c.-337+92T>C	XP_016861766.1:n.-337+92T>C
NM_000187.4:c.87+92T>C MANE Select	NP_000178.2:n.87+92T>C