Canonical Allele Identifier: CA568279280
Gene: LCA5 HGNC NCBI

Linked Data

dbSNP Id: rs1301595234
gnomAD v2: 6-80201290-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79491573T>C , CM000668.2:g.79491573T>C GRCh38
NC_000006.11:g.80201290T>C , CM000668.1:g.80201290T>C GRCh37
NC_000006.10:g.80258009T>C NCBI36
NG_016011.1:g.50858A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369846.9:c.1098+15A>G MANE Select ENSP00000358861.4:n.1098+15A>G
ENST00000369846.8:c.1098+15A>G ENSP00000358861.4:n.1098+15A>G
ENST00000392959.5:c.1098+15A>G ENSP00000376686.1:n.1098+15A>G
ENST00000467898.3:c.1098+15A>G ENSP00000474463.1:n.1098+15A>G
NM_001122769.2:c.1098+15A>G NP_001116241.1:n.1098+15A>G
NM_181714.3:c.1098+15A>G NP_859065.2:n.1098+15A>G
XM_005248665.3:c.1098+15A>G XP_005248722.1:n.1098+15A>G
XM_011535504.1:c.1098+15A>G XP_011533806.1:n.1098+15A>G
XM_005248665.4:c.1098+15A>G XP_005248722.1:n.1098+15A>G
NM_001122769.3:c.1098+15A>G MANE Select NP_001116241.1:n.1098+15A>G
NM_181714.4:c.1098+15A>G NP_859065.2:n.1098+15A>G