Canonical Allele Identifier: CA1397109251
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120674859G= , CM000665.2:g.120674859G= GRCh38
NC_000003.11:g.120393706G= , CM000665.1:g.120393706G= GRCh37
NC_000003.10:g.121876396G= NCBI36
NG_011957.1:g.12623C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.176+42C= MANE Select ENSP00000283871.5:n.176+42C=
ENST00000283871.9:c.176+42C= ENSP00000283871.5:n.176+42C=
ENST00000466528.5:n.202+42C=
ENST00000476082.2:c.53+933C= ENSP00000419560.2:n.53+933C=
ENST00000480862.1:n.376C=
ENST00000485313.5:n.284+42C=
ENST00000488183.5:n.434+42C=
NM_000187.3:c.176+42C= NP_000178.2:n.176+42C=
XM_005247412.1:c.176+42C= XP_005247469.1:n.176+42C=
XM_005247413.1:c.176+42C= XP_005247470.1:n.176+42C=
XM_005247414.3:c.176+42C= XP_005247471.1:n.176+42C=
XM_011512746.1:c.176+42C= XP_011511048.1:n.176+42C=
XM_005247412.2:c.176+42C= XP_005247469.1:n.176+42C=
XM_005247413.2:c.176+42C= XP_005247470.1:n.176+42C=
XM_005247414.5:c.176+42C= XP_005247471.1:n.176+42C=
XM_011512746.2:c.176+42C= XP_011511048.1:n.176+42C=
XM_017006277.2:c.-248+42C= XP_016861766.1:n.-248+42C=
NM_000187.4:c.176+42C= MANE Select NP_000178.2:n.176+42C=