Canonical Allele Identifier: CA1397094546
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120641683G= , CM000665.2:g.120641683G= GRCh38
NC_000003.11:g.120360530G= , CM000665.1:g.120360530G= GRCh37
NC_000003.10:g.121843220G= NCBI36
NG_011957.1:g.45799C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.785C= MANE Select ENSP00000283871.5:p.Pro262=
ENST00000283871.9:c.785C= ENSP00000283871.5:p.Pro262=
ENST00000470321.1:n.125C=
ENST00000475447.2:c.213C=
ENST00000492108.5:c.191C= ENSP00000419838.1:p.Pro64=
ENST00000494453.1:c.205C=
NM_000187.3:c.785C= NP_000178.2:p.Pro262=
XM_005247412.1:c.560C= XP_005247469.1:p.Pro187=
XM_005247413.1:c.785C= XP_005247470.1:p.Pro262=
XM_011512746.1:c.785C= XP_011511048.1:p.Pro262=
XM_005247412.2:c.560C= XP_005247469.1:p.Pro187=
XM_005247413.2:c.785C= XP_005247470.1:p.Pro262=
XM_011512746.2:c.785C= XP_011511048.1:p.Pro262=
XM_017006277.2:c.362C= XP_016861766.1:p.Pro121=
NM_000187.4:c.785C= MANE Select NP_000178.2:p.Pro262=