Canonical Allele Identifier: CA1397098555
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120650808G= , CM000665.2:g.120650808G= GRCh38
NC_000003.11:g.120369655G= , CM000665.1:g.120369655G= GRCh37
NC_000003.10:g.121852345G= NCBI36
NG_011957.1:g.36674C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.400C= MANE Select ENSP00000283871.5:p.His134=
ENST00000283871.9:c.400C= ENSP00000283871.5:p.His134=
ENST00000476082.2:c.277C= ENSP00000419560.2:p.His93=
ENST00000485313.5:n.508C=
ENST00000492108.5:c.31C= ENSP00000419838.1:p.His11=
NM_000187.3:c.400C= NP_000178.2:p.His134=
XM_005247412.1:c.400C= XP_005247469.1:p.His134=
XM_005247413.1:c.400C= XP_005247470.1:p.His134=
XM_005247414.3:c.400C= XP_005247471.1:p.His134=
XM_011512746.1:c.400C= XP_011511048.1:p.His134=
XM_005247412.2:c.400C= XP_005247469.1:p.His134=
XM_005247413.2:c.400C= XP_005247470.1:p.His134=
XM_005247414.5:c.400C= XP_005247471.1:p.His134=
XM_011512746.2:c.400C= XP_011511048.1:p.His134=
XM_017006277.2:c.-24C= XP_016861766.1:n.-24C=
NM_000187.4:c.400C= MANE Select NP_000178.2:p.His134=