Canonical Allele Identifier: CA12273350

Gene: LCA5

Linked Data

• dbSNP Id: rs9352745
• gnomAD v2: 6-80242512-A-C
• gnomAD v3: 6-79532795-A-C
• gnomAD v4: 6-79532795-A-C
• MyVariant Identifiers: chr6:g.80242512A>C (hg19) ; chr6:g.79532795A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79532795A>C , CM000668.2:g.79532795A>C	GRCh38
NC_000006.11:g.80242512A>C , CM000668.1:g.80242512A>C	GRCh37
NC_000006.10:g.80299231A>C	NCBI36
NG_016011.1:g.9636T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369846.9:c.-192+4370T>G MANE Select	ENSP00000358861.4:n.-192+4370T>G
ENST00000369846.8:c.-192+4370T>G	ENSP00000358861.4:n.-192+4370T>G
ENST00000392959.5:c.-298+4321T>G	ENSP00000376686.1:n.-298+4321T>G
ENST00000467898.3:c.-192+4448T>G	ENSP00000474463.1:n.-192+4448T>G
NM_001122769.2:c.-192+4370T>G	NP_001116241.1:n.-192+4370T>G
NM_181714.3:c.-298+4321T>G	NP_859065.2:n.-298+4321T>G
XM_005248665.3:c.-192+4321T>G	XP_005248722.1:n.-192+4321T>G
XM_011535504.1:c.-298+4370T>G	XP_011533806.1:n.-298+4370T>G
XM_005248665.4:c.-192+4321T>G	XP_005248722.1:n.-192+4321T>G
NM_001122769.3:c.-192+4370T>G MANE Select	NP_001116241.1:n.-192+4370T>G
NM_181714.4:c.-298+4321T>G	NP_859065.2:n.-298+4321T>G