Canonical Allele Identifier: CA354081301

Gene: HGD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670469T>G , CM000665.2:g.120670469T>G	GRCh38
NC_000003.11:g.120389316T>G , CM000665.1:g.120389316T>G	GRCh37
NC_000003.10:g.121872006T>G	NCBI36
NG_011957.1:g.17013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.240A>C MANE Select	ENSP00000283871.5:p.Gln80His
ENST00000283871.9:c.240A>C	ENSP00000283871.5:p.Gln80His
ENST00000466528.5:n.266A>C
ENST00000476082.2:c.117A>C	ENSP00000419560.2:p.Gln39His
ENST00000485313.5:n.348A>C
ENST00000488183.5:n.498A>C
NM_000187.3:c.240A>C	NP_000178.2:p.Gln80His
XM_005247412.1:c.240A>C	XP_005247469.1:p.Gln80His
XM_005247413.1:c.240A>C	XP_005247470.1:p.Gln80His
XM_005247414.3:c.240A>C	XP_005247471.1:p.Gln80His
XM_011512746.1:c.240A>C	XP_011511048.1:p.Gln80His
XM_005247412.2:c.240A>C	XP_005247469.1:p.Gln80His
XM_005247413.2:c.240A>C	XP_005247470.1:p.Gln80His
XM_005247414.5:c.240A>C	XP_005247471.1:p.Gln80His
XM_011512746.2:c.240A>C	XP_011511048.1:p.Gln80His
XM_017006277.2:c.-184A>C	XP_016861766.1:n.-184A>C
NM_000187.4:c.240A>C MANE Select	NP_000178.2:p.Gln80His