Canonical Allele Identifier: CA435225939

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120352075G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633228G>A , CM000665.2:g.120633228G>A	GRCh38
NC_000003.11:g.120352075G>A , CM000665.1:g.120352075G>A	GRCh37
NC_000003.10:g.121834765G>A	NCBI36
NG_011957.1:g.54254C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1107C>T MANE Select	ENSP00000283871.5:p.Thr369=
ENST00000283871.9:c.1107C>T	ENSP00000283871.5:p.Thr369=
ENST00000470321.1:n.447C>T
ENST00000492108.5:c.386C>T	ENSP00000419838.1:n.386C>T
NM_000187.3:c.1107C>T	NP_000178.2:p.Thr369=
XM_005247412.1:c.882C>T	XP_005247469.1:p.Thr294=
XM_005247412.2:c.882C>T	XP_005247469.1:p.Thr294=
XM_017006277.2:c.684C>T	XP_016861766.1:p.Thr228=
NM_000187.4:c.1107C>T MANE Select	NP_000178.2:p.Thr369=