Canonical Allele Identifier: CA1397096587
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120646369G= , CM000665.2:g.120646369G= GRCh38
NC_000003.11:g.120365216G= , CM000665.1:g.120365216G= GRCh37
NC_000003.10:g.121847906G= NCBI36
NG_011957.1:g.41113C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.550-3C= MANE Select ENSP00000283871.5:n.550-3C=
ENST00000283871.9:c.550-3C= ENSP00000283871.5:n.550-3C=
ENST00000475447.2:c.81-3C=
ENST00000492108.5:c.180+604C= ENSP00000419838.1:n.180+604C=
NM_000187.3:c.550-3C= NP_000178.2:n.550-3C=
XM_005247412.1:c.549+604C= XP_005247469.1:n.549+604C=
XM_005247413.1:c.550-3C= XP_005247470.1:n.550-3C=
XM_005247414.3:c.550-3C= XP_005247471.1:n.550-3C=
XM_011512746.1:c.550-3C= XP_011511048.1:n.550-3C=
XM_005247412.2:c.549+604C= XP_005247469.1:n.549+604C=
XM_005247413.2:c.550-3C= XP_005247470.1:n.550-3C=
XM_005247414.5:c.550-3C= XP_005247471.1:n.550-3C=
XM_011512746.2:c.550-3C= XP_011511048.1:n.550-3C=
XM_017006277.2:c.127-3C= XP_016861766.1:n.127-3C=
NM_000187.4:c.550-3C= MANE Select NP_000178.2:n.550-3C=