Canonical Allele Identifier: CA1397099275
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120652426T= , CM000665.2:g.120652426T= GRCh38
NC_000003.11:g.120371273T= , CM000665.1:g.120371273T= GRCh37
NC_000003.10:g.121853963T= NCBI36
NG_011957.1:g.35056A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.342+166A= MANE Select ENSP00000283871.5:n.342+166A=
ENST00000283871.9:c.342+166A= ENSP00000283871.5:n.342+166A=
ENST00000476082.2:c.219+166A= ENSP00000419560.2:n.219+166A=
ENST00000485313.5:n.450+166A=
NM_000187.3:c.342+166A= NP_000178.2:n.342+166A=
XM_005247412.1:c.342+166A= XP_005247469.1:n.342+166A=
XM_005247413.1:c.342+166A= XP_005247470.1:n.342+166A=
XM_005247414.3:c.342+166A= XP_005247471.1:n.342+166A=
XM_011512746.1:c.342+166A= XP_011511048.1:n.342+166A=
XM_005247412.2:c.342+166A= XP_005247469.1:n.342+166A=
XM_005247413.2:c.342+166A= XP_005247470.1:n.342+166A=
XM_005247414.5:c.342+166A= XP_005247471.1:n.342+166A=
XM_011512746.2:c.342+166A= XP_011511048.1:n.342+166A=
XM_017006277.2:c.-82+166A= XP_016861766.1:n.-82+166A=
NM_000187.4:c.342+166A= MANE Select NP_000178.2:n.342+166A=