Canonical Allele Identifier: CA344906
Gene: HGD HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.120650848A>C
GRCh37 chr3:g.120369695A>C
Revel Score:
ENST00000283871 (MANE Select) 0.948
ENST00000476082 0.948
gnomAD v3:
3:120650848 A / C
gnomAD v4:
chr3-120650848-A-C
Joint Max Group AF 0.00001063 (AFR)
Genomes Max Group AF 0.00002261 (AMR)
ClinVar Allele:
76486
ClinVar RCV:
RCV000055782
ClinVar Variation:
65578
dbSNP:
149165166
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120650848A>C , CM000665.2:g.120650848A>C GRCh38
NC_000003.11:g.120369695A>C , CM000665.1:g.120369695A>C GRCh37
NC_000003.10:g.121852385A>C NCBI36
NG_011957.1:g.36634T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.360T>G MANE Select ENSP00000283871.5:p.Cys120Trp
ENST00000283871.9:c.360T>G ENSP00000283871.5:p.Cys120Trp
ENST00000476082.2:c.237T>G ENSP00000419560.2:p.Cys79Trp
ENST00000485313.5:n.468T>G
NM_000187.3:c.360T>G NP_000178.2:p.Cys120Trp
XM_005247412.1:c.360T>G XP_005247469.1:p.Cys120Trp
XM_005247413.1:c.360T>G XP_005247470.1:p.Cys120Trp
XM_005247414.3:c.360T>G XP_005247471.1:p.Cys120Trp
XM_011512746.1:c.360T>G XP_011511048.1:p.Cys120Trp
XM_005247412.2:c.360T>G XP_005247469.1:p.Cys120Trp
XM_005247413.2:c.360T>G XP_005247470.1:p.Cys120Trp
XM_005247414.5:c.360T>G XP_005247471.1:p.Cys120Trp
XM_011512746.2:c.360T>G XP_011511048.1:p.Cys120Trp
XM_017006277.2:c.-64T>G XP_016861766.1:n.-64T>G
NM_000187.4:c.360T>G MANE Select NP_000178.2:p.Cys120Trp
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