Canonical Allele Identifier: CA1397096696
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120646591C= , CM000665.2:g.120646591C= GRCh38
NC_000003.11:g.120365438C= , CM000665.1:g.120365438C= GRCh37
NC_000003.10:g.121848128C= NCBI36
NG_011957.1:g.40891G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.550-225G= MANE Select ENSP00000283871.5:n.550-225G=
ENST00000283871.9:c.550-225G= ENSP00000283871.5:n.550-225G=
ENST00000475447.2:c.81-225G=
ENST00000492108.5:c.180+382G= ENSP00000419838.1:n.180+382G=
NM_000187.3:c.550-225G= NP_000178.2:n.550-225G=
XM_005247412.1:c.549+382G= XP_005247469.1:n.549+382G=
XM_005247413.1:c.550-225G= XP_005247470.1:n.550-225G=
XM_005247414.3:c.550-225G= XP_005247471.1:n.550-225G=
XM_011512746.1:c.550-225G= XP_011511048.1:n.550-225G=
XM_005247412.2:c.549+382G= XP_005247469.1:n.549+382G=
XM_005247413.2:c.550-225G= XP_005247470.1:n.550-225G=
XM_005247414.5:c.550-225G= XP_005247471.1:n.550-225G=
XM_011512746.2:c.550-225G= XP_011511048.1:n.550-225G=
XM_017006277.2:c.127-225G= XP_016861766.1:n.127-225G=
NM_000187.4:c.550-225G= MANE Select NP_000178.2:n.550-225G=