Canonical Allele Identifier: CA10624692

Gene: LCA5

Linked Data

• ClinVar Variation Id: 358067
• ClinVar RCV Id: RCV000310583
• dbSNP Id: rs184100878
• gnomAD v2: 6-80195144-A-C
• gnomAD v3: 6-79485427-A-C
• gnomAD v4: 6-79485427-A-C
• MyVariant Identifiers: chr6:g.80195144A>C (hg19) ; chr6:g.79485427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79485427A>C , CM000668.2:g.79485427A>C	GRCh38
NC_000006.11:g.80195144A>C , CM000668.1:g.80195144A>C	GRCh37
NC_000006.10:g.80251863A>C	NCBI36
NG_016011.1:g.57004T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.*1577T>G MANE Select	ENSP00000358861.4:n.*1577T>G
ENST00000369846.8:c.*1577T>G	ENSP00000358861.4:n.*1577T>G
ENST00000392959.5:c.*1577T>G	ENSP00000376686.1:n.*1577T>G
NM_001122769.2:c.*1577T>G	NP_001116241.1:n.*1577T>G
NM_181714.3:c.*1577T>G	NP_859065.2:n.*1577T>G
XM_005248665.3:c.*1577T>G	XP_005248722.1:n.*1577T>G
XM_011535504.1:c.*1577T>G	XP_011533806.1:n.*1577T>G
XR_942715.1:n.544-3006A>C
XR_942716.1:n.506-3006A>C
XR_942717.1:n.778-3006A>C
XM_005248665.4:c.*1577T>G	XP_005248722.1:n.*1577T>G
XR_001744213.1:n.2169-3006A>C
XR_001744214.1:n.2131-3006A>C
NM_001122769.3:c.*1577T>G MANE Select	NP_001116241.1:n.*1577T>G
NM_181714.4:c.*1577T>G	NP_859065.2:n.*1577T>G