Canonical Allele Identifier: CA1052824569

Gene: HGD

Linked Data

• dbSNP Id: rs1941325516
• gnomAD v3: 3-120650974-C-G
• gnomAD v4: 3-120650974-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650974C>G , CM000665.2:g.120650974C>G	GRCh38
NC_000003.11:g.120369821C>G , CM000665.1:g.120369821C>G	GRCh37
NC_000003.10:g.121852511C>G	NCBI36
NG_011957.1:g.36508G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.343-109G>C MANE Select	ENSP00000283871.5:n.343-109G>C
ENST00000283871.9:c.343-109G>C	ENSP00000283871.5:n.343-109G>C
ENST00000476082.2:c.220-109G>C	ENSP00000419560.2:n.220-109G>C
ENST00000485313.5:n.451-109G>C
NM_000187.3:c.343-109G>C	NP_000178.2:n.343-109G>C
XM_005247412.1:c.343-109G>C	XP_005247469.1:n.343-109G>C
XM_005247413.1:c.343-109G>C	XP_005247470.1:n.343-109G>C
XM_005247414.3:c.343-109G>C	XP_005247471.1:n.343-109G>C
XM_011512746.1:c.343-109G>C	XP_011511048.1:n.343-109G>C
XM_005247412.2:c.343-109G>C	XP_005247469.1:n.343-109G>C
XM_005247413.2:c.343-109G>C	XP_005247470.1:n.343-109G>C
XM_005247414.5:c.343-109G>C	XP_005247471.1:n.343-109G>C
XM_011512746.2:c.343-109G>C	XP_011511048.1:n.343-109G>C
XM_017006277.2:c.-81-109G>C	XP_016861766.1:n.-81-109G>C
NM_000187.4:c.343-109G>C MANE Select	NP_000178.2:n.343-109G>C