Canonical Allele Identifier: CA1397099258

Gene: HGD

Linked Data

• dbSNP Id: rs1941368258

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120652400T>C , CM000665.2:g.120652400T>C	GRCh38
NC_000003.11:g.120371247T>C , CM000665.1:g.120371247T>C	GRCh37
NC_000003.10:g.121853937T>C	NCBI36
NG_011957.1:g.35082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.342+192A>G MANE Select	ENSP00000283871.5:n.342+192A>G
ENST00000283871.9:c.342+192A>G	ENSP00000283871.5:n.342+192A>G
ENST00000476082.2:c.219+192A>G	ENSP00000419560.2:n.219+192A>G
ENST00000485313.5:n.450+192A>G
NM_000187.3:c.342+192A>G	NP_000178.2:n.342+192A>G
XM_005247412.1:c.342+192A>G	XP_005247469.1:n.342+192A>G
XM_005247413.1:c.342+192A>G	XP_005247470.1:n.342+192A>G
XM_005247414.3:c.342+192A>G	XP_005247471.1:n.342+192A>G
XM_011512746.1:c.342+192A>G	XP_011511048.1:n.342+192A>G
XM_005247412.2:c.342+192A>G	XP_005247469.1:n.342+192A>G
XM_005247413.2:c.342+192A>G	XP_005247470.1:n.342+192A>G
XM_005247414.5:c.342+192A>G	XP_005247471.1:n.342+192A>G
XM_011512746.2:c.342+192A>G	XP_011511048.1:n.342+192A>G
XM_017006277.2:c.-82+192A>G	XP_016861766.1:n.-82+192A>G
NM_000187.4:c.342+192A>G MANE Select	NP_000178.2:n.342+192A>G