Canonical Allele Identifier: CA354072657

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120351998G>T (hg19) ; chr3:g.120633151G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633151G>T , CM000665.2:g.120633151G>T	GRCh38
NC_000003.11:g.120351998G>T , CM000665.1:g.120351998G>T	GRCh37
NC_000003.10:g.121834688G>T	NCBI36
NG_011957.1:g.54331C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1184C>A MANE Select	ENSP00000283871.5:p.Thr395Asn
ENST00000283871.9:c.1184C>A	ENSP00000283871.5:p.Thr395Asn
ENST00000470321.1:n.524C>A
ENST00000492108.5:c.463C>A	ENSP00000419838.1:n.463C>A
NM_000187.3:c.1184C>A	NP_000178.2:p.Thr395Asn
XM_005247412.1:c.959C>A	XP_005247469.1:p.Thr320Asn
XM_005247412.2:c.959C>A	XP_005247469.1:p.Thr320Asn
XM_017006277.2:c.761C>A	XP_016861766.1:p.Thr254Asn
NM_000187.4:c.1184C>A MANE Select	NP_000178.2:p.Thr395Asn