Canonical Allele Identifier: CA1397098541
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120650765G= , CM000665.2:g.120650765G= GRCh38
NC_000003.11:g.120369612G= , CM000665.1:g.120369612G= GRCh37
NC_000003.10:g.121852302G= NCBI36
NG_011957.1:g.36717C=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.434+9C= MANE Select ENSP00000283871.5:n.434+9C=
ENST00000283871.9:c.434+9C= ENSP00000283871.5:n.434+9C=
ENST00000476082.2:c.311+9C= ENSP00000419560.2:n.311+9C=
ENST00000492108.5:c.65+9C= ENSP00000419838.1:n.65+9C=
NM_000187.3:c.434+9C= NP_000178.2:n.434+9C=
XM_005247412.1:c.434+9C= XP_005247469.1:n.434+9C=
XM_005247413.1:c.434+9C= XP_005247470.1:n.434+9C=
XM_005247414.3:c.434+9C= XP_005247471.1:n.434+9C=
XM_011512746.1:c.434+9C= XP_011511048.1:n.434+9C=
XM_005247412.2:c.434+9C= XP_005247469.1:n.434+9C=
XM_005247413.2:c.434+9C= XP_005247470.1:n.434+9C=
XM_005247414.5:c.434+9C= XP_005247471.1:n.434+9C=
XM_011512746.2:c.434+9C= XP_011511048.1:n.434+9C=
XM_017006277.2:c.11+9C= XP_016861766.1:n.11+9C=
NM_000187.4:c.434+9C= MANE Select NP_000178.2:n.434+9C=