Canonical Allele Identifier: CA1397090753
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633278T= , CM000665.2:g.120633278T= GRCh38
NC_000003.11:g.120352125T= , CM000665.1:g.120352125T= GRCh37
NC_000003.10:g.121834815T= NCBI36
NG_011957.1:g.54204A=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1057A= MANE Select ENSP00000283871.5:p.Lys353=
ENST00000283871.9:c.1057A= ENSP00000283871.5:p.Lys353=
ENST00000470321.1:n.397A=
ENST00000492108.5:c.336A= ENSP00000419838.1:n.336A=
NM_000187.3:c.1057A= NP_000178.2:p.Lys353=
XM_005247412.1:c.832A= XP_005247469.1:p.Lys278=
XM_005247412.2:c.832A= XP_005247469.1:p.Lys278=
XM_017006277.2:c.634A= XP_016861766.1:p.Lys212=
NM_000187.4:c.1057A= MANE Select NP_000178.2:p.Lys353=