Canonical Allele Identifier: CA354072726

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120352032C>G (hg19) ; chr3:g.120633185C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633185C>G , CM000665.2:g.120633185C>G	GRCh38
NC_000003.11:g.120352032C>G , CM000665.1:g.120352032C>G	GRCh37
NC_000003.10:g.121834722C>G	NCBI36
NG_011957.1:g.54297G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1150G>C MANE Select	ENSP00000283871.5:p.Val384Leu
ENST00000283871.9:c.1150G>C	ENSP00000283871.5:p.Val384Leu
ENST00000470321.1:n.490G>C
ENST00000492108.5:c.429G>C	ENSP00000419838.1:n.429G>C
NM_000187.3:c.1150G>C	NP_000178.2:p.Val384Leu
XM_005247412.1:c.925G>C	XP_005247469.1:p.Val309Leu
XM_005247412.2:c.925G>C	XP_005247469.1:p.Val309Leu
XM_017006277.2:c.727G>C	XP_016861766.1:p.Val243Leu
NM_000187.4:c.1150G>C MANE Select	NP_000178.2:p.Val384Leu