Canonical Allele Identifier: CA10622755
Gene: LCA5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.79537371C>G
GRCh37 chr6:g.80247088C>G
gnomAD v2:
6:80247088 C / G
gnomAD v3:
6:79537371 C / G
gnomAD v4:
chr6-79537371-C-G
Joint Max Group AF 0.01065025 (NFE)
Genomes Max Group AF 0.01061308 (NFE)
Exomes Max Group AF 0.00825408 (NFE)
ClinVar RCV:
RCV000377966
RCV002512086
ClinVar Variation:
358116
dbSNP:
370115829
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79537371C>G , CM000668.2:g.79537371C>G GRCh38
NC_000006.11:g.80247088C>G , CM000668.1:g.80247088C>G GRCh37
NC_000006.10:g.80303807C>G NCBI36
NG_016011.1:g.5060G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369846.9:c.-398G>C MANE Select ENSP00000358861.4:n.-398G>C
ENST00000369846.8:c.-398G>C ENSP00000358861.4:n.-398G>C
ENST00000392959.5:c.-553G>C ENSP00000376686.1:n.-553G>C
ENST00000467898.3:c.-320G>C ENSP00000474463.1:n.-320G>C
NM_001122769.2:c.-398G>C NP_001116241.1:n.-398G>C
NM_181714.3:c.-553G>C NP_859065.2:n.-553G>C
XM_005248665.3:c.-447G>C XP_005248722.1:n.-447G>C
XM_011535504.1:c.-504G>C XP_011533806.1:n.-504G>C
XM_005248665.4:c.-447G>C XP_005248722.1:n.-447G>C
NM_001122769.3:c.-398G>C MANE Select NP_001116241.1:n.-398G>C
NM_181714.4:c.-553G>C NP_859065.2:n.-553G>C
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