Canonical Allele Identifier: CA1397109186
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120674713C= , CM000665.2:g.120674713C= GRCh38
NC_000003.11:g.120393560C= , CM000665.1:g.120393560C= GRCh37
NC_000003.10:g.121876250C= NCBI36
NG_011957.1:g.12769G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.176+188G= MANE Select ENSP00000283871.5:n.176+188G=
ENST00000283871.9:c.176+188G= ENSP00000283871.5:n.176+188G=
ENST00000466528.5:n.202+188G=
ENST00000476082.2:c.53+1079G= ENSP00000419560.2:n.53+1079G=
ENST00000480862.1:n.522G=
ENST00000485313.5:n.284+188G=
ENST00000488183.5:n.434+188G=
NM_000187.3:c.176+188G= NP_000178.2:n.176+188G=
XM_005247412.1:c.176+188G= XP_005247469.1:n.176+188G=
XM_005247413.1:c.176+188G= XP_005247470.1:n.176+188G=
XM_005247414.3:c.176+188G= XP_005247471.1:n.176+188G=
XM_011512746.1:c.176+188G= XP_011511048.1:n.176+188G=
XM_005247412.2:c.176+188G= XP_005247469.1:n.176+188G=
XM_005247413.2:c.176+188G= XP_005247470.1:n.176+188G=
XM_005247414.5:c.176+188G= XP_005247471.1:n.176+188G=
XM_011512746.2:c.176+188G= XP_011511048.1:n.176+188G=
XM_017006277.2:c.-248+188G= XP_016861766.1:n.-248+188G=
NM_000187.4:c.176+188G= MANE Select NP_000178.2:n.176+188G=