Canonical Allele Identifier: CA1397109292
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120674937G= , CM000665.2:g.120674937G= GRCh38
NC_000003.11:g.120393784G= , CM000665.1:g.120393784G= GRCh37
NC_000003.10:g.121876474G= NCBI36
NG_011957.1:g.12545C=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.140C= MANE Select ENSP00000283871.5:p.Ser47=
ENST00000283871.9:c.140C= ENSP00000283871.5:p.Ser47=
ENST00000466528.5:n.166C=
ENST00000476082.2:c.53+855C= ENSP00000419560.2:n.53+855C=
ENST00000480862.1:n.298C=
ENST00000485313.5:n.248C=
ENST00000488183.5:n.398C=
NM_000187.3:c.140C= NP_000178.2:p.Ser47=
XM_005247412.1:c.140C= XP_005247469.1:p.Ser47=
XM_005247413.1:c.140C= XP_005247470.1:p.Ser47=
XM_005247414.3:c.140C= XP_005247471.1:p.Ser47=
XM_011512746.1:c.140C= XP_011511048.1:p.Ser47=
XM_005247412.2:c.140C= XP_005247469.1:p.Ser47=
XM_005247413.2:c.140C= XP_005247470.1:p.Ser47=
XM_005247414.5:c.140C= XP_005247471.1:p.Ser47=
XM_011512746.2:c.140C= XP_011511048.1:p.Ser47=
XM_017006277.2:c.-284C= XP_016861766.1:n.-284C=
NM_000187.4:c.140C= MANE Select NP_000178.2:p.Ser47=