Canonical Allele Identifier: CA1397093144
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120638611A= , CM000665.2:g.120638611A= GRCh38
NC_000003.11:g.120357458A= , CM000665.1:g.120357458A= GRCh37
NC_000003.10:g.121840148A= NCBI36
NG_011957.1:g.48871T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.880-30T= MANE Select ENSP00000283871.5:n.880-30T=
ENST00000283871.9:c.880-30T= ENSP00000283871.5:n.880-30T=
ENST00000470321.1:n.220-30T=
ENST00000475447.2:c.307+2978T=
ENST00000492108.5:c.285+2978T= ENSP00000419838.1:n.285+2978T=
ENST00000494453.1:c.300-30T=
NM_000187.3:c.880-30T= NP_000178.2:n.880-30T=
XM_005247412.1:c.655-30T= XP_005247469.1:n.655-30T=
XM_005247413.1:c.880-30T= XP_005247470.1:n.880-30T=
XM_011512746.1:c.879+2978T= XP_011511048.1:n.879+2978T=
XM_005247412.2:c.655-30T= XP_005247469.1:n.655-30T=
XM_005247413.2:c.880-30T= XP_005247470.1:n.880-30T=
XM_011512746.2:c.879+2978T= XP_011511048.1:n.879+2978T=
XM_017006277.2:c.457-30T= XP_016861766.1:n.457-30T=
NM_000187.4:c.880-30T= MANE Select NP_000178.2:n.880-30T=