Canonical Allele Identifier: CA1397093959
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120640385G= , CM000665.2:g.120640385G= GRCh38
NC_000003.11:g.120359232G= , CM000665.1:g.120359232G= GRCh37
NC_000003.10:g.121841922G= NCBI36
NG_011957.1:g.47097C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.879+1204C= MANE Select ENSP00000283871.5:n.879+1204C=
ENST00000283871.9:c.879+1204C= ENSP00000283871.5:n.879+1204C=
ENST00000470321.1:n.219+1204C=
ENST00000475447.2:c.307+1204C=
ENST00000492108.5:c.285+1204C= ENSP00000419838.1:n.285+1204C=
ENST00000494453.1:c.299+1204C=
NM_000187.3:c.879+1204C= NP_000178.2:n.879+1204C=
XM_005247412.1:c.654+1204C= XP_005247469.1:n.654+1204C=
XM_005247413.1:c.879+1204C= XP_005247470.1:n.879+1204C=
XM_011512746.1:c.879+1204C= XP_011511048.1:n.879+1204C=
XM_005247412.2:c.654+1204C= XP_005247469.1:n.654+1204C=
XM_005247413.2:c.879+1204C= XP_005247470.1:n.879+1204C=
XM_011512746.2:c.879+1204C= XP_011511048.1:n.879+1204C=
XM_017006277.2:c.456+1204C= XP_016861766.1:n.456+1204C=
NM_000187.4:c.879+1204C= MANE Select NP_000178.2:n.879+1204C=