Canonical Allele Identifier: CA3900777
Gene: LCA5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.79487329T>C
GRCh37 chr6:g.80197046T>C
Revel Score:
ENST00000369846 (MANE Select) 0.034
ENST00000392959 0.034
gnomAD v2:
6:80197046 T / C
gnomAD v3:
6:79487329 T / C
gnomAD v4:
chr6-79487329-T-C
Joint Max Group AF 0.00267675 (EAS)
Genomes Max Group AF 0.00015663 (EAS)
Exomes Max Group AF 0.00295708 (EAS)
ClinVar RCV:
RCV000357229
RCV001517466
ClinVar Variation:
358090
dbSNP:
771460783
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79487329T>C , CM000668.2:g.79487329T>C GRCh38
NC_000006.11:g.80197046T>C , CM000668.1:g.80197046T>C GRCh37
NC_000006.10:g.80253765T>C NCBI36
NG_016011.1:g.55102A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369846.9:c.1769A>G MANE Select ENSP00000358861.4:p.Asp590Gly
ENST00000369846.8:c.1769A>G ENSP00000358861.4:p.Asp590Gly
ENST00000392959.5:c.1769A>G ENSP00000376686.1:p.Asp590Gly
NM_001122769.2:c.1769A>G NP_001116241.1:p.Asp590Gly
NM_181714.3:c.1769A>G NP_859065.2:p.Asp590Gly
XM_005248665.3:c.1769A>G XP_005248722.1:p.Asp590Gly
XM_011535504.1:c.1769A>G XP_011533806.1:p.Asp590Gly
XR_942715.1:n.544-1104T>C
XR_942716.1:n.506-1104T>C
XR_942717.1:n.778-1104T>C
XM_005248665.4:c.1769A>G XP_005248722.1:p.Asp590Gly
XR_001744213.1:n.2169-1104T>C
XR_001744214.1:n.2131-1104T>C
NM_001122769.3:c.1769A>G MANE Select NP_001116241.1:p.Asp590Gly
NM_181714.4:c.1769A>G NP_859065.2:p.Asp590Gly
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