Canonical Allele Identifier: CA1397090690

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633148A= , CM000665.2:g.120633148A=	GRCh38
NC_000003.11:g.120351995A= , CM000665.1:g.120351995A=	GRCh37
NC_000003.10:g.121834685A=	NCBI36
NG_011957.1:g.54334T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1187T= MANE Select	ENSP00000283871.5:p.Met396=
ENST00000283871.9:c.1187T=	ENSP00000283871.5:p.Met396=
ENST00000470321.1:n.527T=
ENST00000492108.5:c.466T=	ENSP00000419838.1:n.466T=
NM_000187.3:c.1187T=	NP_000178.2:p.Met396=
XM_005247412.1:c.962T=	XP_005247469.1:p.Met321=
XM_005247412.2:c.962T=	XP_005247469.1:p.Met321=
XM_017006277.2:c.764T=	XP_016861766.1:p.Met255=
NM_000187.4:c.1187T= MANE Select	NP_000178.2:p.Met396=