Canonical Allele Identifier: CA1052825006

Gene: HGD

Linked Data

• dbSNP Id: rs1941368176
• gnomAD v3: 3-120652397-C-G
• gnomAD v4: 3-120652397-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120652397C>G , CM000665.2:g.120652397C>G	GRCh38
NC_000003.11:g.120371244C>G , CM000665.1:g.120371244C>G	GRCh37
NC_000003.10:g.121853934C>G	NCBI36
NG_011957.1:g.35085G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.342+195G>C MANE Select	ENSP00000283871.5:n.342+195G>C
ENST00000283871.9:c.342+195G>C	ENSP00000283871.5:n.342+195G>C
ENST00000476082.2:c.219+195G>C	ENSP00000419560.2:n.219+195G>C
ENST00000485313.5:n.450+195G>C
NM_000187.3:c.342+195G>C	NP_000178.2:n.342+195G>C
XM_005247412.1:c.342+195G>C	XP_005247469.1:n.342+195G>C
XM_005247413.1:c.342+195G>C	XP_005247470.1:n.342+195G>C
XM_005247414.3:c.342+195G>C	XP_005247471.1:n.342+195G>C
XM_011512746.1:c.342+195G>C	XP_011511048.1:n.342+195G>C
XM_005247412.2:c.342+195G>C	XP_005247469.1:n.342+195G>C
XM_005247413.2:c.342+195G>C	XP_005247470.1:n.342+195G>C
XM_005247414.5:c.342+195G>C	XP_005247471.1:n.342+195G>C
XM_011512746.2:c.342+195G>C	XP_011511048.1:n.342+195G>C
XM_017006277.2:c.-82+195G>C	XP_016861766.1:n.-82+195G>C
NM_000187.4:c.342+195G>C MANE Select	NP_000178.2:n.342+195G>C