Canonical Allele Identifier: CA340048

Gene: HGD

Linked Data

• ClinVar Variation Id: 3173
• ClinVar RCV Id: RCV000003323 ; RCV002279945 ; RCV002287319
• dbSNP Id: rs120074173
• ExAC: 3:120352080 T / C
• gnomAD v2: 3-120352080-T-C
• gnomAD v3: 3-120633233-T-C
• gnomAD v4: 3-120633233-T-C
• MyVariant Identifiers: chr3:g.120352080T>C (hg19) ; chr3:g.120633233T>C (hg38)
• PubMed: PMID:9529363 ; PMID:10594001 ; PMID:20301627

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633233T>C , CM000665.2:g.120633233T>C	GRCh38
NC_000003.11:g.120352080T>C , CM000665.1:g.120352080T>C	GRCh37
NC_000003.10:g.121834770T>C	NCBI36
NG_011957.1:g.54249A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1102A>G MANE Select	ENSP00000283871.5:p.Met368Val
ENST00000283871.9:c.1102A>G	ENSP00000283871.5:p.Met368Val
ENST00000470321.1:n.442A>G
ENST00000492108.5:c.381A>G	ENSP00000419838.1:n.381A>G
NM_000187.3:c.1102A>G	NP_000178.2:p.Met368Val
XM_005247412.1:c.877A>G	XP_005247469.1:p.Met293Val
XM_005247412.2:c.877A>G	XP_005247469.1:p.Met293Val
XM_017006277.2:c.679A>G	XP_016861766.1:p.Met227Val
NM_000187.4:c.1102A>G MANE Select	NP_000178.2:p.Met368Val