Canonical Allele Identifier: CA3900944
Gene: LCA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 358099
ClinVar RCV Id: RCV000393430 RCV000946289 RCV001272073 RCV002524508
dbSNP Id: rs200988021
ExAC: 6:80201306 A / G
gnomAD v2: 6-80201306-A-G
gnomAD v3: 6-79491589-A-G
gnomAD v4: 6-79491589-A-G
MyVariant Identifiers: chr6:g.80201306A>G (hg19) chr6:g.79491589A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79491589A>G , CM000668.2:g.79491589A>G GRCh38
NC_000006.11:g.80201306A>G , CM000668.1:g.80201306A>G GRCh37
NC_000006.10:g.80258025A>G NCBI36
NG_016011.1:g.50842T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369846.9:c.1097T>C MANE Select ENSP00000358861.4:p.Leu366Ser
ENST00000369846.8:c.1097T>C ENSP00000358861.4:p.Leu366Ser
ENST00000392959.5:c.1097T>C ENSP00000376686.1:p.Leu366Ser
ENST00000467898.3:c.1097T>C ENSP00000474463.1:p.Leu366Ser
NM_001122769.2:c.1097T>C NP_001116241.1:p.Leu366Ser
NM_181714.3:c.1097T>C NP_859065.2:p.Leu366Ser
XM_005248665.3:c.1097T>C XP_005248722.1:p.Leu366Ser
XM_011535504.1:c.1097T>C XP_011533806.1:p.Leu366Ser
XM_005248665.4:c.1097T>C XP_005248722.1:p.Leu366Ser
NM_001122769.3:c.1097T>C MANE Select NP_001116241.1:p.Leu366Ser
NM_181714.4:c.1097T>C NP_859065.2:p.Leu366Ser
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