Canonical Allele Identifier: CA3900885
Gene: LCA5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.79489100A>C
GRCh37 chr6:g.80198817A>C
gnomAD v2:
6:80198817 A / C
gnomAD v3:
6:79489100 A / C
gnomAD v4:
chr6-79489100-A-C
Joint Max Group AF 0.00083529 (NFE)
Genomes Max Group AF 0.00075583 (NFE)
Exomes Max Group AF 0.00082969 (NFE)
ClinVar Allele:
271989
ClinVar RCV:
RCV000296587
RCV001271950
ClinVar Variation:
287752
dbSNP:
41270545
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79489100A>C , CM000668.2:g.79489100A>C GRCh38
NC_000006.11:g.80198817A>C , CM000668.1:g.80198817A>C GRCh37
NC_000006.10:g.80255536A>C NCBI36
NG_016011.1:g.53331T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369846.9:c.1215T>G MANE Select ENSP00000358861.4:p.Val405=
ENST00000369846.8:c.1215T>G ENSP00000358861.4:p.Val405=
ENST00000392959.5:c.1215T>G ENSP00000376686.1:p.Val405=
ENST00000467898.3:c.1215T>G ENSP00000474463.1:p.Val405=
NM_001122769.2:c.1215T>G NP_001116241.1:p.Val405=
NM_181714.3:c.1215T>G NP_859065.2:p.Val405=
XM_005248665.3:c.1215T>G XP_005248722.1:p.Val405=
XM_011535504.1:c.1215T>G XP_011533806.1:p.Val405=
XM_005248665.4:c.1215T>G XP_005248722.1:p.Val405=
XR_001744213.1:n.2836A>C
XR_001744214.1:n.2798A>C
NM_001122769.3:c.1215T>G MANE Select NP_001116241.1:p.Val405=
NM_181714.4:c.1215T>G NP_859065.2:p.Val405=
Search 100 bp 5'
Search 100 bp 3'