Canonical Allele Identifier: CA1397093046
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120638409T= , CM000665.2:g.120638409T= GRCh38
NC_000003.11:g.120357256T= , CM000665.1:g.120357256T= GRCh37
NC_000003.10:g.121839946T= NCBI36
NG_011957.1:g.49073A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.1006+46A= MANE Select ENSP00000283871.5:n.1006+46A=
ENST00000283871.9:c.1006+46A= ENSP00000283871.5:n.1006+46A=
ENST00000470321.1:n.346+46A=
ENST00000475447.2:c.307+3180A=
ENST00000492108.5:c.285+3180A= ENSP00000419838.1:n.285+3180A=
ENST00000494453.1:c.426+46A=
NM_000187.3:c.1006+46A= NP_000178.2:n.1006+46A=
XM_005247412.1:c.781+46A= XP_005247469.1:n.781+46A=
XM_005247413.1:c.1006+46A= XP_005247470.1:n.1006+46A=
XM_011512746.1:c.879+3180A= XP_011511048.1:n.879+3180A=
XM_005247412.2:c.781+46A= XP_005247469.1:n.781+46A=
XM_005247413.2:c.1006+46A= XP_005247470.1:n.1006+46A=
XM_011512746.2:c.879+3180A= XP_011511048.1:n.879+3180A=
XM_017006277.2:c.583+46A= XP_016861766.1:n.583+46A=
NM_000187.4:c.1006+46A= MANE Select NP_000178.2:n.1006+46A=