Canonical Allele Identifier: CA568284867

Gene: LCA5

Linked Data

• dbSNP Id: rs1256091657
• gnomAD v2: 6-80242599-G-T
• gnomAD v3: 6-79532882-G-T
• gnomAD v4: 6-79532882-G-T
• MyVariant Identifiers: chr6:g.80242599G>T (hg19) ; chr6:g.79532882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79532882G>T , CM000668.2:g.79532882G>T	GRCh38
NC_000006.11:g.80242599G>T , CM000668.1:g.80242599G>T	GRCh37
NC_000006.10:g.80299318G>T	NCBI36
NG_016011.1:g.9549C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.-192+4283C>A MANE Select	ENSP00000358861.4:n.-192+4283C>A
ENST00000369846.8:c.-192+4283C>A	ENSP00000358861.4:n.-192+4283C>A
ENST00000392959.5:c.-298+4234C>A	ENSP00000376686.1:n.-298+4234C>A
ENST00000467898.3:c.-192+4361C>A	ENSP00000474463.1:n.-192+4361C>A
NM_001122769.2:c.-192+4283C>A	NP_001116241.1:n.-192+4283C>A
NM_181714.3:c.-298+4234C>A	NP_859065.2:n.-298+4234C>A
XM_005248665.3:c.-192+4234C>A	XP_005248722.1:n.-192+4234C>A
XM_011535504.1:c.-298+4283C>A	XP_011533806.1:n.-298+4283C>A
XM_005248665.4:c.-192+4234C>A	XP_005248722.1:n.-192+4234C>A
NM_001122769.3:c.-192+4283C>A MANE Select	NP_001116241.1:n.-192+4283C>A
NM_181714.4:c.-298+4234C>A	NP_859065.2:n.-298+4234C>A