Canonical Allele Identifier: CA1397093103
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120638535C= , CM000665.2:g.120638535C= GRCh38
NC_000003.11:g.120357382C= , CM000665.1:g.120357382C= GRCh37
NC_000003.10:g.121840072C= NCBI36
NG_011957.1:g.48947G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.926G= MANE Select ENSP00000283871.5:p.Gly309=
ENST00000283871.9:c.926G= ENSP00000283871.5:p.Gly309=
ENST00000470321.1:n.266G=
ENST00000475447.2:c.307+3054G=
ENST00000492108.5:c.285+3054G= ENSP00000419838.1:n.285+3054G=
ENST00000494453.1:c.346G=
NM_000187.3:c.926G= NP_000178.2:p.Gly309=
XM_005247412.1:c.701G= XP_005247469.1:p.Gly234=
XM_005247413.1:c.926G= XP_005247470.1:p.Gly309=
XM_011512746.1:c.879+3054G= XP_011511048.1:n.879+3054G=
XM_005247412.2:c.701G= XP_005247469.1:p.Gly234=
XM_005247413.2:c.926G= XP_005247470.1:p.Gly309=
XM_011512746.2:c.879+3054G= XP_011511048.1:n.879+3054G=
XM_017006277.2:c.503G= XP_016861766.1:p.Gly168=
NM_000187.4:c.926G= MANE Select NP_000178.2:p.Gly309=