Canonical Allele Identifier: CA1397098518
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120650737A= , CM000665.2:g.120650737A= GRCh38
NC_000003.11:g.120369584A= , CM000665.1:g.120369584A= GRCh37
NC_000003.10:g.121852274A= NCBI36
NG_011957.1:g.36745T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.434+37T= MANE Select ENSP00000283871.5:n.434+37T=
ENST00000283871.9:c.434+37T= ENSP00000283871.5:n.434+37T=
ENST00000476082.2:c.311+37T= ENSP00000419560.2:n.311+37T=
ENST00000492108.5:c.65+37T= ENSP00000419838.1:n.65+37T=
NM_000187.3:c.434+37T= NP_000178.2:n.434+37T=
XM_005247412.1:c.434+37T= XP_005247469.1:n.434+37T=
XM_005247413.1:c.434+37T= XP_005247470.1:n.434+37T=
XM_005247414.3:c.434+37T= XP_005247471.1:n.434+37T=
XM_011512746.1:c.434+37T= XP_011511048.1:n.434+37T=
XM_005247412.2:c.434+37T= XP_005247469.1:n.434+37T=
XM_005247413.2:c.434+37T= XP_005247470.1:n.434+37T=
XM_005247414.5:c.434+37T= XP_005247471.1:n.434+37T=
XM_011512746.2:c.434+37T= XP_011511048.1:n.434+37T=
XM_017006277.2:c.11+37T= XP_016861766.1:n.11+37T=
NM_000187.4:c.434+37T= MANE Select NP_000178.2:n.434+37T=