Canonical Allele Identifier: CA3900739

Gene: LCA5

Linked Data

• ClinVar Variation Id: 358089
• ClinVar RCV Id: RCV000265908 ; RCV001057224
• dbSNP Id: rs371733166
• ExAC: 6:80196809 C / A
• gnomAD v2: 6-80196809-C-A
• gnomAD v3: 6-79487092-C-A
• gnomAD v4: 6-79487092-C-A
• MyVariant Identifiers: chr6:g.80196809C>A (hg19) ; chr6:g.79487092C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79487092C>A , CM000668.2:g.79487092C>A	GRCh38
NC_000006.11:g.80196809C>A , CM000668.1:g.80196809C>A	GRCh37
NC_000006.10:g.80253528C>A	NCBI36
NG_016011.1:g.55339G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.2006G>T MANE Select	ENSP00000358861.4:p.Arg669Met
ENST00000369846.8:c.2006G>T	ENSP00000358861.4:p.Arg669Met
ENST00000392959.5:c.2006G>T	ENSP00000376686.1:p.Arg669Met
NM_001122769.2:c.2006G>T	NP_001116241.1:p.Arg669Met
NM_181714.3:c.2006G>T	NP_859065.2:p.Arg669Met
XM_005248665.3:c.2006G>T	XP_005248722.1:p.Arg669Met
XM_011535504.1:c.2006G>T	XP_011533806.1:p.Arg669Met
XR_942715.1:n.544-1341C>A
XR_942716.1:n.506-1341C>A
XR_942717.1:n.778-1341C>A
XM_005248665.4:c.2006G>T	XP_005248722.1:p.Arg669Met
XR_001744213.1:n.2169-1341C>A
XR_001744214.1:n.2131-1341C>A
NM_001122769.3:c.2006G>T MANE Select	NP_001116241.1:p.Arg669Met
NM_181714.4:c.2006G>T	NP_859065.2:p.Arg669Met