Canonical Allele Identifier: CA10624693

Gene: LCA5

Linked Data

• ClinVar Variation Id: 358074
• ClinVar RCV Id: RCV000374653
• dbSNP Id: rs528853254
• gnomAD v2: 6-80195584-C-A
• gnomAD v3: 6-79485867-C-A
• gnomAD v4: 6-79485867-C-A
• MyVariant Identifiers: chr6:g.80195584C>A (hg19) ; chr6:g.79485867C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79485867C>A , CM000668.2:g.79485867C>A	GRCh38
NC_000006.11:g.80195584C>A , CM000668.1:g.80195584C>A	GRCh37
NC_000006.10:g.80252303C>A	NCBI36
NG_016011.1:g.56564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.*1137G>T MANE Select	ENSP00000358861.4:n.*1137G>T
ENST00000369846.8:c.*1137G>T	ENSP00000358861.4:n.*1137G>T
ENST00000392959.5:c.*1137G>T	ENSP00000376686.1:n.*1137G>T
NM_001122769.2:c.*1137G>T	NP_001116241.1:n.*1137G>T
NM_181714.3:c.*1137G>T	NP_859065.2:n.*1137G>T
XM_005248665.3:c.*1137G>T	XP_005248722.1:n.*1137G>T
XM_011535504.1:c.*1137G>T	XP_011533806.1:n.*1137G>T
XR_942715.1:n.544-2566C>A
XR_942716.1:n.506-2566C>A
XR_942717.1:n.778-2566C>A
XM_005248665.4:c.*1137G>T	XP_005248722.1:n.*1137G>T
XR_001744213.1:n.2169-2566C>A
XR_001744214.1:n.2131-2566C>A
NM_001122769.3:c.*1137G>T MANE Select	NP_001116241.1:n.*1137G>T
NM_181714.4:c.*1137G>T	NP_859065.2:n.*1137G>T