Canonical Allele Identifier: CA435230120

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120682097C>T , CM000665.2:g.120682097C>T	GRCh38
NC_000003.11:g.120400944C>T , CM000665.1:g.120400944C>T	GRCh37
NC_000003.10:g.121883634C>T	NCBI36
NG_011957.1:g.5385G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.15G>A MANE Select	NP_000178.2:p.Lys5=
ENST00000283871.10:c.15G>A MANE Select	ENSP00000283871.5:p.Lys5=
NM_000187.3:c.15G>A	NP_000178.2:p.Lys5=
ENST00000283871.9:c.15G>A	ENSP00000283871.5:p.Lys5=
ENST00000466528.5:n.41G>A
ENST00000476082.2:c.-20G>A	ENSP00000419560.2:n.-20G>A
ENST00000480862.1:n.173G>A
ENST00000485313.5:n.35G>A
ENST00000488183.5:n.147G>A
XM_005247412.1:c.15G>A	XP_005247469.1:p.Lys5=
XM_005247412.2:c.15G>A	XP_005247469.1:p.Lys5=
XM_005247413.1:c.15G>A	XP_005247470.1:p.Lys5=
XM_005247413.2:c.15G>A	XP_005247470.1:p.Lys5=
XM_005247414.3:c.15G>A	XP_005247471.1:p.Lys5=
XM_005247414.5:c.15G>A	XP_005247471.1:p.Lys5=
XM_011512746.1:c.15G>A	XP_011511048.1:p.Lys5=
XM_011512746.2:c.15G>A	XP_011511048.1:p.Lys5=
XM_017006277.2:c.-497G>A	XP_016861766.1:n.-497G>A