Canonical Allele Identifier: CA141864468

Gene: LCA5

Linked Data

• ClinVar Variation Id: 438153
• ClinVar RCV Id: RCV000504935 ; RCV000505126 ; RCV000624398 ; RCV001382408 ; RCV001834629
• dbSNP Id: rs866395428
• gnomAD v4: 6-79493633-G-A
• COSMIC: COSM3176062
• MyVariant Identifiers: chr6:g.80203350G>A (hg19) ; chr6:g.79493633G>A (hg38)
• PubMed: PMID:10631161 ; PMID:12642313 ; PMID:17546029 ; PMID:18000884 ; PMID:25412400 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79493633G>A , CM000668.2:g.79493633G>A	GRCh38
NC_000006.11:g.80203350G>A , CM000668.1:g.80203350G>A	GRCh37
NC_000006.10:g.80260069G>A	NCBI36
NG_016011.1:g.48798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.838C>T MANE Select	ENSP00000358861.4:p.Arg280Ter
ENST00000369846.8:c.838C>T	ENSP00000358861.4:p.Arg280Ter
ENST00000392959.5:c.838C>T	ENSP00000376686.1:p.Arg280Ter
ENST00000467898.3:c.838C>T	ENSP00000474463.1:p.Arg280Ter
NM_001122769.2:c.838C>T	NP_001116241.1:p.Arg280Ter
NM_181714.3:c.838C>T	NP_859065.2:p.Arg280Ter
XM_005248665.3:c.838C>T	XP_005248722.1:p.Arg280Ter
XM_011535504.1:c.838C>T	XP_011533806.1:p.Arg280Ter
XM_005248665.4:c.838C>T	XP_005248722.1:p.Arg280Ter
NM_001122769.3:c.838C>T MANE Select	NP_001116241.1:p.Arg280Ter
NM_181714.4:c.838C>T	NP_859065.2:p.Arg280Ter