Canonical Allele Identifier: CA435225736

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120352024C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633177C>A , CM000665.2:g.120633177C>A	GRCh38
NC_000003.11:g.120352024C>A , CM000665.1:g.120352024C>A	GRCh37
NC_000003.10:g.121834714C>A	NCBI36
NG_011957.1:g.54305G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1158G>T MANE Select	ENSP00000283871.5:p.Leu386=
ENST00000283871.9:c.1158G>T	ENSP00000283871.5:p.Leu386=
ENST00000470321.1:n.498G>T
ENST00000492108.5:c.437G>T	ENSP00000419838.1:n.437G>T
NM_000187.3:c.1158G>T	NP_000178.2:p.Leu386=
XM_005247412.1:c.933G>T	XP_005247469.1:p.Leu311=
XM_005247412.2:c.933G>T	XP_005247469.1:p.Leu311=
XM_017006277.2:c.735G>T	XP_016861766.1:p.Leu245=
NM_000187.4:c.1158G>T MANE Select	NP_000178.2:p.Leu386=