Canonical Allele Identifier: CA10627663

Gene: LCA5

Linked Data

• ClinVar Variation Id: 358085
• ClinVar RCV Id: RCV000364222
• dbSNP Id: rs2292109
• gnomAD v2: 6-80196498-T-C
• gnomAD v3: 6-79486781-T-C
• gnomAD v4: 6-79486781-T-C
• MyVariant Identifiers: chr6:g.80196498T>C (hg19) ; chr6:g.79486781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79486781T>C , CM000668.2:g.79486781T>C	GRCh38
NC_000006.11:g.80196498T>C , CM000668.1:g.80196498T>C	GRCh37
NC_000006.10:g.80253217T>C	NCBI36
NG_016011.1:g.55650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.*223A>G MANE Select	ENSP00000358861.4:n.*223A>G
ENST00000369846.8:c.*223A>G	ENSP00000358861.4:n.*223A>G
ENST00000392959.5:c.*223A>G	ENSP00000376686.1:n.*223A>G
NM_001122769.2:c.*223A>G	NP_001116241.1:n.*223A>G
NM_181714.3:c.*223A>G	NP_859065.2:n.*223A>G
XM_005248665.3:c.*223A>G	XP_005248722.1:n.*223A>G
XM_011535504.1:c.*223A>G	XP_011533806.1:n.*223A>G
XR_942715.1:n.544-1652T>C
XR_942716.1:n.506-1652T>C
XR_942717.1:n.778-1652T>C
XM_005248665.4:c.*223A>G	XP_005248722.1:n.*223A>G
XR_001744213.1:n.2169-1652T>C
XR_001744214.1:n.2131-1652T>C
NM_001122769.3:c.*223A>G MANE Select	NP_001116241.1:n.*223A>G
NM_181714.4:c.*223A>G	NP_859065.2:n.*223A>G