Canonical Allele Identifier: CA1397090755
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633286T= , CM000665.2:g.120633286T= GRCh38
NC_000003.11:g.120352133T= , CM000665.1:g.120352133T= GRCh37
NC_000003.10:g.121834823T= NCBI36
NG_011957.1:g.54196A=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1049A= MANE Select ENSP00000283871.5:p.Tyr350=
ENST00000283871.9:c.1049A= ENSP00000283871.5:p.Tyr350=
ENST00000470321.1:n.389A=
ENST00000492108.5:c.328A= ENSP00000419838.1:n.328A=
NM_000187.3:c.1049A= NP_000178.2:p.Tyr350=
XM_005247412.1:c.824A= XP_005247469.1:p.Tyr275=
XM_005247412.2:c.824A= XP_005247469.1:p.Tyr275=
XM_017006277.2:c.626A= XP_016861766.1:p.Tyr209=
NM_000187.4:c.1049A= MANE Select NP_000178.2:p.Tyr350=