Canonical Allele Identifier: CA1397094554
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120641700A= , CM000665.2:g.120641700A= GRCh38
NC_000003.11:g.120360547A= , CM000665.1:g.120360547A= GRCh37
NC_000003.10:g.121843237A= NCBI36
NG_011957.1:g.45782T=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.775-7T= MANE Select ENSP00000283871.5:n.775-7T=
ENST00000283871.9:c.775-7T= ENSP00000283871.5:n.775-7T=
ENST00000470321.1:n.108T=
ENST00000475447.2:c.203-7T=
ENST00000492108.5:c.181-7T= ENSP00000419838.1:n.181-7T=
ENST00000494453.1:c.195-7T=
NM_000187.3:c.775-7T= NP_000178.2:n.775-7T=
XM_005247412.1:c.550-7T= XP_005247469.1:n.550-7T=
XM_005247413.1:c.775-7T= XP_005247470.1:n.775-7T=
XM_011512746.1:c.775-7T= XP_011511048.1:n.775-7T=
XM_005247412.2:c.550-7T= XP_005247469.1:n.550-7T=
XM_005247413.2:c.775-7T= XP_005247470.1:n.775-7T=
XM_011512746.2:c.775-7T= XP_011511048.1:n.775-7T=
XM_017006277.2:c.352-7T= XP_016861766.1:n.352-7T=
NM_000187.4:c.775-7T= MANE Select NP_000178.2:n.775-7T=