Canonical Allele Identifier: CA364639222

Gene: LCA5

Linked Data

• ClinVar Variation Id: 438152
• ClinVar RCV Id: RCV000505038
• dbSNP Id: rs766143193
• MyVariant Identifiers: chr6:g.80197139G>T (hg19) ; chr6:g.79487422G>T (hg38)
• PubMed: PMID:23946133 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79487422G>T , CM000668.2:g.79487422G>T	GRCh38
NC_000006.11:g.80197139G>T , CM000668.1:g.80197139G>T	GRCh37
NC_000006.10:g.80253858G>T	NCBI36
NG_016011.1:g.55009C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1676C>A MANE Select	ENSP00000358861.4:p.Ser559Ter
ENST00000369846.8:c.1676C>A	ENSP00000358861.4:p.Ser559Ter
ENST00000392959.5:c.1676C>A	ENSP00000376686.1:p.Ser559Ter
NM_001122769.2:c.1676C>A	NP_001116241.1:p.Ser559Ter
NM_181714.3:c.1676C>A	NP_859065.2:p.Ser559Ter
XM_005248665.3:c.1676C>A	XP_005248722.1:p.Ser559Ter
XM_011535504.1:c.1676C>A	XP_011533806.1:p.Ser559Ter
XR_942715.1:n.544-1011G>T
XR_942716.1:n.506-1011G>T
XR_942717.1:n.778-1011G>T
XM_005248665.4:c.1676C>A	XP_005248722.1:p.Ser559Ter
XR_001744213.1:n.2169-1011G>T
XR_001744214.1:n.2131-1011G>T
NM_001122769.3:c.1676C>A MANE Select	NP_001116241.1:p.Ser559Ter
NM_181714.4:c.1676C>A	NP_859065.2:p.Ser559Ter