Canonical Allele Identifier: CA1397107395
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120670526C= , CM000665.2:g.120670526C= GRCh38
NC_000003.11:g.120389373C= , CM000665.1:g.120389373C= GRCh37
NC_000003.10:g.121872063C= NCBI36
NG_011957.1:g.16956G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.183G= MANE Select ENSP00000283871.5:p.Leu61=
ENST00000283871.9:c.183G= ENSP00000283871.5:p.Leu61=
ENST00000466528.5:n.209G=
ENST00000476082.2:c.60G= ENSP00000419560.2:p.Leu20=
ENST00000485313.5:n.291G=
ENST00000488183.5:n.441G=
NM_000187.3:c.183G= NP_000178.2:p.Leu61=
XM_005247412.1:c.183G= XP_005247469.1:p.Leu61=
XM_005247413.1:c.183G= XP_005247470.1:p.Leu61=
XM_005247414.3:c.183G= XP_005247471.1:p.Leu61=
XM_011512746.1:c.183G= XP_011511048.1:p.Leu61=
XM_005247412.2:c.183G= XP_005247469.1:p.Leu61=
XM_005247413.2:c.183G= XP_005247470.1:p.Leu61=
XM_005247414.5:c.183G= XP_005247471.1:p.Leu61=
XM_011512746.2:c.183G= XP_011511048.1:p.Leu61=
XM_017006277.2:c.-241G= XP_016861766.1:n.-241G=
NM_000187.4:c.183G= MANE Select NP_000178.2:p.Leu61=