Canonical Allele Identifier: CA248276
Gene: LCA5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.79487072C>A
GRCh37 chr6:g.80196789C>A
Revel Score:
ENST00000369846 (MANE Select) 0.088
ENST00000392959 0.088
gnomAD v2:
6:80196789 C / A
gnomAD v3:
6:79487072 C / A
gnomAD v4:
chr6-79487072-C-A
Joint Max Group AF 0.00384102 (AFR)
Genomes Max Group AF 0.00345227 (AFR)
Exomes Max Group AF 0.00398003 (AFR)
ClinVar Allele:
196354
ClinVar RCV:
RCV000180711
RCV001272068
RCV001335589
ClinVar Variation:
199195
dbSNP:
143582502
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79487072C>A , CM000668.2:g.79487072C>A GRCh38
NC_000006.11:g.80196789C>A , CM000668.1:g.80196789C>A GRCh37
NC_000006.10:g.80253508C>A NCBI36
NG_016011.1:g.55359G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369846.9:c.2026G>T MANE Select ENSP00000358861.4:p.Asp676Tyr
ENST00000369846.8:c.2026G>T ENSP00000358861.4:p.Asp676Tyr
ENST00000392959.5:c.2026G>T ENSP00000376686.1:p.Asp676Tyr
NM_001122769.2:c.2026G>T NP_001116241.1:p.Asp676Tyr
NM_181714.3:c.2026G>T NP_859065.2:p.Asp676Tyr
XM_005248665.3:c.2026G>T XP_005248722.1:p.Asp676Tyr
XM_011535504.1:c.2026G>T XP_011533806.1:p.Asp676Tyr
XR_942715.1:n.544-1361C>A
XR_942716.1:n.506-1361C>A
XR_942717.1:n.778-1361C>A
XM_005248665.4:c.2026G>T XP_005248722.1:p.Asp676Tyr
XR_001744213.1:n.2169-1361C>A
XR_001744214.1:n.2131-1361C>A
NM_001122769.3:c.2026G>T MANE Select NP_001116241.1:p.Asp676Tyr
NM_181714.4:c.2026G>T NP_859065.2:p.Asp676Tyr
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