Canonical Allele Identifier: CA1397107370
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120670466G= , CM000665.2:g.120670466G= GRCh38
NC_000003.11:g.120389313G= , CM000665.1:g.120389313G= GRCh37
NC_000003.10:g.121872003G= NCBI36
NG_011957.1:g.17016C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.243C= MANE Select ENSP00000283871.5:p.Val81=
ENST00000283871.9:c.243C= ENSP00000283871.5:p.Val81=
ENST00000466528.5:n.269C=
ENST00000476082.2:c.120C= ENSP00000419560.2:p.Val40=
ENST00000485313.5:n.351C=
ENST00000488183.5:n.501C=
NM_000187.3:c.243C= NP_000178.2:p.Val81=
XM_005247412.1:c.243C= XP_005247469.1:p.Val81=
XM_005247413.1:c.243C= XP_005247470.1:p.Val81=
XM_005247414.3:c.243C= XP_005247471.1:p.Val81=
XM_011512746.1:c.243C= XP_011511048.1:p.Val81=
XM_005247412.2:c.243C= XP_005247469.1:p.Val81=
XM_005247413.2:c.243C= XP_005247470.1:p.Val81=
XM_005247414.5:c.243C= XP_005247471.1:p.Val81=
XM_011512746.2:c.243C= XP_011511048.1:p.Val81=
XM_017006277.2:c.-181C= XP_016861766.1:n.-181C=
NM_000187.4:c.243C= MANE Select NP_000178.2:p.Val81=