Canonical Allele Identifier: CA1397090706
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633173G= , CM000665.2:g.120633173G= GRCh38
NC_000003.11:g.120352020G= , CM000665.1:g.120352020G= GRCh37
NC_000003.10:g.121834710G= NCBI36
NG_011957.1:g.54309C=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1162C= MANE Select ENSP00000283871.5:p.Pro388=
ENST00000283871.9:c.1162C= ENSP00000283871.5:p.Pro388=
ENST00000470321.1:n.502C=
ENST00000492108.5:c.441C= ENSP00000419838.1:n.441C=
NM_000187.3:c.1162C= NP_000178.2:p.Pro388=
XM_005247412.1:c.937C= XP_005247469.1:p.Pro313=
XM_005247412.2:c.937C= XP_005247469.1:p.Pro313=
XM_017006277.2:c.739C= XP_016861766.1:p.Pro247=
NM_000187.4:c.1162C= MANE Select NP_000178.2:p.Pro388=