Canonical Allele Identifier: CA354072917

Gene: HGD

Linked Data

• ClinVar Variation Id: 2895160
• ClinVar RCV Id: RCV003608605
• gnomAD v4: 3-120633274-T-G
• MyVariant Identifiers: chr3:g.120352121T>G (hg19) ; chr3:g.120633274T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633274T>G , CM000665.2:g.120633274T>G	GRCh38
NC_000003.11:g.120352121T>G , CM000665.1:g.120352121T>G	GRCh37
NC_000003.10:g.121834811T>G	NCBI36
NG_011957.1:g.54208A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1061A>C MANE Select	ENSP00000283871.5:p.Gln354Pro
ENST00000283871.9:c.1061A>C	ENSP00000283871.5:p.Gln354Pro
ENST00000470321.1:n.401A>C
ENST00000492108.5:c.340A>C	ENSP00000419838.1:n.340A>C
NM_000187.3:c.1061A>C	NP_000178.2:p.Gln354Pro
XM_005247412.1:c.836A>C	XP_005247469.1:p.Gln279Pro
XM_005247412.2:c.836A>C	XP_005247469.1:p.Gln279Pro
XM_017006277.2:c.638A>C	XP_016861766.1:p.Gln213Pro
NM_000187.4:c.1061A>C MANE Select	NP_000178.2:p.Gln354Pro