Canonical Allele Identifier: CA1397109451
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120675259C= , CM000665.2:g.120675259C= GRCh38
NC_000003.11:g.120394106C= , CM000665.1:g.120394106C= GRCh37
NC_000003.10:g.121876796C= NCBI36
NG_011957.1:g.12223G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.88-270G= MANE Select ENSP00000283871.5:n.88-270G=
ENST00000283871.9:c.88-270G= ENSP00000283871.5:n.88-270G=
ENST00000466528.5:n.114-270G=
ENST00000476082.2:c.53+533G= ENSP00000419560.2:n.53+533G=
ENST00000480862.1:n.246-270G=
ENST00000485313.5:n.196-270G=
ENST00000488183.5:n.346-270G=
NM_000187.3:c.88-270G= NP_000178.2:n.88-270G=
XM_005247412.1:c.88-270G= XP_005247469.1:n.88-270G=
XM_005247413.1:c.88-270G= XP_005247470.1:n.88-270G=
XM_005247414.3:c.88-270G= XP_005247471.1:n.88-270G=
XM_011512746.1:c.88-270G= XP_011511048.1:n.88-270G=
XM_005247412.2:c.88-270G= XP_005247469.1:n.88-270G=
XM_005247413.2:c.88-270G= XP_005247470.1:n.88-270G=
XM_005247414.5:c.88-270G= XP_005247471.1:n.88-270G=
XM_011512746.2:c.88-270G= XP_011511048.1:n.88-270G=
XM_017006277.2:c.-336-270G= XP_016861766.1:n.-336-270G=
NM_000187.4:c.88-270G= MANE Select NP_000178.2:n.88-270G=