Canonical Allele Identifier: CA1397090727
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633228G= , CM000665.2:g.120633228G= GRCh38
NC_000003.11:g.120352075G= , CM000665.1:g.120352075G= GRCh37
NC_000003.10:g.121834765G= NCBI36
NG_011957.1:g.54254C=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1107C= MANE Select ENSP00000283871.5:p.Thr369=
ENST00000283871.9:c.1107C= ENSP00000283871.5:p.Thr369=
ENST00000470321.1:n.447C=
ENST00000492108.5:c.386C= ENSP00000419838.1:n.386C=
NM_000187.3:c.1107C= NP_000178.2:p.Thr369=
XM_005247412.1:c.882C= XP_005247469.1:p.Thr294=
XM_005247412.2:c.882C= XP_005247469.1:p.Thr294=
XM_017006277.2:c.684C= XP_016861766.1:p.Thr228=
NM_000187.4:c.1107C= MANE Select NP_000178.2:p.Thr369=