Canonical Allele Identifier: CA10627661

Gene: LCA5

Linked Data

• ClinVar Variation Id: 358072
• ClinVar RCV Id: RCV000264667
• dbSNP Id: rs552095479
• gnomAD v2: 6-80195405-G-A
• gnomAD v3: 6-79485688-G-A
• gnomAD v4: 6-79485688-G-A
• MyVariant Identifiers: chr6:g.80195405G>A (hg19) ; chr6:g.79485688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79485688G>A , CM000668.2:g.79485688G>A	GRCh38
NC_000006.11:g.80195405G>A , CM000668.1:g.80195405G>A	GRCh37
NC_000006.10:g.80252124G>A	NCBI36
NG_016011.1:g.56743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.*1316C>T MANE Select	ENSP00000358861.4:n.*1316C>T
ENST00000369846.8:c.*1316C>T	ENSP00000358861.4:n.*1316C>T
ENST00000392959.5:c.*1316C>T	ENSP00000376686.1:n.*1316C>T
NM_001122769.2:c.*1316C>T	NP_001116241.1:n.*1316C>T
NM_181714.3:c.*1316C>T	NP_859065.2:n.*1316C>T
XM_005248665.3:c.*1316C>T	XP_005248722.1:n.*1316C>T
XM_011535504.1:c.*1316C>T	XP_011533806.1:n.*1316C>T
XR_942715.1:n.544-2745G>A
XR_942716.1:n.506-2745G>A
XR_942717.1:n.778-2745G>A
XM_005248665.4:c.*1316C>T	XP_005248722.1:n.*1316C>T
XR_001744213.1:n.2169-2745G>A
XR_001744214.1:n.2131-2745G>A
NM_001122769.3:c.*1316C>T MANE Select	NP_001116241.1:n.*1316C>T
NM_181714.4:c.*1316C>T	NP_859065.2:n.*1316C>T