Canonical Allele Identifier: CA1397099277
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120652430T= , CM000665.2:g.120652430T= GRCh38
NC_000003.11:g.120371277T= , CM000665.1:g.120371277T= GRCh37
NC_000003.10:g.121853967T= NCBI36
NG_011957.1:g.35052A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.342+162A= MANE Select ENSP00000283871.5:n.342+162A=
ENST00000283871.9:c.342+162A= ENSP00000283871.5:n.342+162A=
ENST00000476082.2:c.219+162A= ENSP00000419560.2:n.219+162A=
ENST00000485313.5:n.450+162A=
NM_000187.3:c.342+162A= NP_000178.2:n.342+162A=
XM_005247412.1:c.342+162A= XP_005247469.1:n.342+162A=
XM_005247413.1:c.342+162A= XP_005247470.1:n.342+162A=
XM_005247414.3:c.342+162A= XP_005247471.1:n.342+162A=
XM_011512746.1:c.342+162A= XP_011511048.1:n.342+162A=
XM_005247412.2:c.342+162A= XP_005247469.1:n.342+162A=
XM_005247413.2:c.342+162A= XP_005247470.1:n.342+162A=
XM_005247414.5:c.342+162A= XP_005247471.1:n.342+162A=
XM_011512746.2:c.342+162A= XP_011511048.1:n.342+162A=
XM_017006277.2:c.-82+162A= XP_016861766.1:n.-82+162A=
NM_000187.4:c.342+162A= MANE Select NP_000178.2:n.342+162A=