Canonical Allele Identifier: CA1397090713

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633183G= , CM000665.2:g.120633183G=	GRCh38
NC_000003.11:g.120352030G= , CM000665.1:g.120352030G=	GRCh37
NC_000003.10:g.121834720G=	NCBI36
NG_011957.1:g.54299C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1152C= MANE Select	ENSP00000283871.5:p.Val384=
ENST00000283871.9:c.1152C=	ENSP00000283871.5:p.Val384=
ENST00000470321.1:n.492C=
ENST00000492108.5:c.431C=	ENSP00000419838.1:n.431C=
NM_000187.3:c.1152C=	NP_000178.2:p.Val384=
XM_005247412.1:c.927C=	XP_005247469.1:p.Val309=
XM_005247412.2:c.927C=	XP_005247469.1:p.Val309=
XM_017006277.2:c.729C=	XP_016861766.1:p.Val243=
NM_000187.4:c.1152C= MANE Select	NP_000178.2:p.Val384=