Canonical Allele Identifier: CA1397096425
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120646010A= , CM000665.2:g.120646010A= GRCh38
NC_000003.11:g.120364857A= , CM000665.1:g.120364857A= GRCh37
NC_000003.10:g.121847547A= NCBI36
NG_011957.1:g.41472T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.649+257T= MANE Select ENSP00000283871.5:n.649+257T=
ENST00000283871.9:c.649+257T= ENSP00000283871.5:n.649+257T=
ENST00000475447.2:c.180+257T=
ENST00000492108.5:c.180+963T= ENSP00000419838.1:n.180+963T=
ENST00000494453.1:c.69+257T=
NM_000187.3:c.649+257T= NP_000178.2:n.649+257T=
XM_005247412.1:c.549+963T= XP_005247469.1:n.549+963T=
XM_005247413.1:c.649+257T= XP_005247470.1:n.649+257T=
XM_005247414.3:c.649+257T= XP_005247471.1:n.649+257T=
XM_011512746.1:c.649+257T= XP_011511048.1:n.649+257T=
XM_005247412.2:c.549+963T= XP_005247469.1:n.549+963T=
XM_005247413.2:c.649+257T= XP_005247470.1:n.649+257T=
XM_005247414.5:c.649+257T= XP_005247471.1:n.649+257T=
XM_011512746.2:c.649+257T= XP_011511048.1:n.649+257T=
XM_017006277.2:c.226+257T= XP_016861766.1:n.226+257T=
NM_000187.4:c.649+257T= MANE Select NP_000178.2:n.649+257T=