Canonical Allele Identifier: CA180169

Gene: LCA5

Linked Data

• ClinVar Variation Id: 167255
• ClinVar RCV Id: RCV000153448 ; RCV000318671 ; RCV000987742 ; RCV001515546
• dbSNP Id: rs1875845
• ExAC: 6:80196848 C / T
• gnomAD v2: 6-80196848-C-T
• gnomAD v3: 6-79487131-C-T
• gnomAD v4: 6-79487131-C-T
• MyVariant Identifiers: chr6:g.80196848C>T (hg19) ; chr6:g.79487131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79487131C>T , CM000668.2:g.79487131C>T	GRCh38
NC_000006.11:g.80196848C>T , CM000668.1:g.80196848C>T	GRCh37
NC_000006.10:g.80253567C>T	NCBI36
NG_016011.1:g.55300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1967G>A MANE Select	ENSP00000358861.4:p.Gly656Asp
ENST00000369846.8:c.1967G>A	ENSP00000358861.4:p.Gly656Asp
ENST00000392959.5:c.1967G>A	ENSP00000376686.1:p.Gly656Asp
NM_001122769.2:c.1967G>A	NP_001116241.1:p.Gly656Asp
NM_181714.3:c.1967G>A	NP_859065.2:p.Gly656Asp
XM_005248665.3:c.1967G>A	XP_005248722.1:p.Gly656Asp
XM_011535504.1:c.1967G>A	XP_011533806.1:p.Gly656Asp
XR_942715.1:n.544-1302C>T
XR_942716.1:n.506-1302C>T
XR_942717.1:n.778-1302C>T
XM_005248665.4:c.1967G>A	XP_005248722.1:p.Gly656Asp
XR_001744213.1:n.2169-1302C>T
XR_001744214.1:n.2131-1302C>T
NM_001122769.3:c.1967G>A MANE Select	NP_001116241.1:p.Gly656Asp
NM_181714.4:c.1967G>A	NP_859065.2:p.Gly656Asp