Canonical Allele Identifier: CA8366093
Gene: GUCY2D HGNC NCBI
ClinGen Evidence Repository:
Classification Benign
Condition GUCY2D-related recessive retinopathy
VCEP Leber Congenital Amaurosis/early onset Retinal Dystrophy VCEP
COSMIC:
COSM3756014 (not active)
MyVariant.info:
GRCh38 chr17:g.8013961T>A
GRCh37 chr17:g.7917279T>A
Revel Score:
ENST00000254854 (MANE Select) 0.119
gnomAD v2:
17:7917279 T / A
gnomAD v3:
17:8013961 T / A
gnomAD v4:
chr17-8013961-T-A
Joint Max Group AF 0.39946557 (AFR)
Genomes Max Group AF 0.3942514 (AFR)
Exomes Max Group AF 0.40242622 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8013961T>A , CM000679.2:g.8013961T>A GRCh38
NC_000017.10:g.7917279T>A , CM000679.1:g.7917279T>A GRCh37
NC_000017.9:g.7858004T>A NCBI36
NG_009092.1:g.16292T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2345T>A MANE Select ENSP00000254854.4:p.Leu782His
ENST00000254854.4:c.2345T>A ENSP00000254854.4:p.Leu782His
NM_000180.3:c.2345T>A NP_000171.1:p.Leu782His
XM_011523816.1:c.2345T>A XP_011522118.1:p.Leu782His
NM_000180.4:c.2345T>A MANE Select NP_000171.1:p.Leu782His
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