Canonical Allele Identifier: CA1090947151

Gene: LCA5

Linked Data

• dbSNP Id: rs1766998382
• gnomAD v3: 6-79532839-T-A
• gnomAD v4: 6-79532839-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79532839T>A , CM000668.2:g.79532839T>A	GRCh38
NC_000006.11:g.80242556T>A , CM000668.1:g.80242556T>A	GRCh37
NC_000006.10:g.80299275T>A	NCBI36
NG_016011.1:g.9592A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.-192+4326A>T MANE Select	ENSP00000358861.4:n.-192+4326A>T
ENST00000369846.8:c.-192+4326A>T	ENSP00000358861.4:n.-192+4326A>T
ENST00000392959.5:c.-298+4277A>T	ENSP00000376686.1:n.-298+4277A>T
ENST00000467898.3:c.-192+4404A>T	ENSP00000474463.1:n.-192+4404A>T
NM_001122769.2:c.-192+4326A>T	NP_001116241.1:n.-192+4326A>T
NM_181714.3:c.-298+4277A>T	NP_859065.2:n.-298+4277A>T
XM_005248665.3:c.-192+4277A>T	XP_005248722.1:n.-192+4277A>T
XM_011535504.1:c.-298+4326A>T	XP_011533806.1:n.-298+4326A>T
XM_005248665.4:c.-192+4277A>T	XP_005248722.1:n.-192+4277A>T
NM_001122769.3:c.-192+4326A>T MANE Select	NP_001116241.1:n.-192+4326A>T
NM_181714.4:c.-298+4277A>T	NP_859065.2:n.-298+4277A>T