Canonical Allele Identifier: CA1397090731
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633233T= , CM000665.2:g.120633233T= GRCh38
NC_000003.11:g.120352080T= , CM000665.1:g.120352080T= GRCh37
NC_000003.10:g.121834770T= NCBI36
NG_011957.1:g.54249A=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1102A= MANE Select ENSP00000283871.5:p.Met368=
ENST00000283871.9:c.1102A= ENSP00000283871.5:p.Met368=
ENST00000470321.1:n.442A=
ENST00000492108.5:c.381A= ENSP00000419838.1:n.381A=
NM_000187.3:c.1102A= NP_000178.2:p.Met368=
XM_005247412.1:c.877A= XP_005247469.1:p.Met293=
XM_005247412.2:c.877A= XP_005247469.1:p.Met293=
XM_017006277.2:c.679A= XP_016861766.1:p.Met227=
NM_000187.4:c.1102A= MANE Select NP_000178.2:p.Met368=