Canonical Allele Identifier: CA1397090712
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633182T= , CM000665.2:g.120633182T= GRCh38
NC_000003.11:g.120352029T= , CM000665.1:g.120352029T= GRCh37
NC_000003.10:g.121834719T= NCBI36
NG_011957.1:g.54300A=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1153A= MANE Select ENSP00000283871.5:p.Lys385=
ENST00000283871.9:c.1153A= ENSP00000283871.5:p.Lys385=
ENST00000470321.1:n.493A=
ENST00000492108.5:c.432A= ENSP00000419838.1:n.432A=
NM_000187.3:c.1153A= NP_000178.2:p.Lys385=
XM_005247412.1:c.928A= XP_005247469.1:p.Lys310=
XM_005247412.2:c.928A= XP_005247469.1:p.Lys310=
XM_017006277.2:c.730A= XP_016861766.1:p.Lys244=
NM_000187.4:c.1153A= MANE Select NP_000178.2:p.Lys385=