Canonical Allele Identifier: CA1397090730
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633231C= , CM000665.2:g.120633231C= GRCh38
NC_000003.11:g.120352078C= , CM000665.1:g.120352078C= GRCh37
NC_000003.10:g.121834768C= NCBI36
NG_011957.1:g.54251G=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1104G= MANE Select ENSP00000283871.5:p.Met368=
ENST00000283871.9:c.1104G= ENSP00000283871.5:p.Met368=
ENST00000470321.1:n.444G=
ENST00000492108.5:c.383G= ENSP00000419838.1:n.383G=
NM_000187.3:c.1104G= NP_000178.2:p.Met368=
XM_005247412.1:c.879G= XP_005247469.1:p.Met293=
XM_005247412.2:c.879G= XP_005247469.1:p.Met293=
XM_017006277.2:c.681G= XP_016861766.1:p.Met227=
NM_000187.4:c.1104G= MANE Select NP_000178.2:p.Met368=