Canonical Allele Identifier: CA451117457
Gene: LCA5 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79487085T>G , CM000668.2:g.79487085T>G GRCh38
NC_000006.11:g.80196802T>G , CM000668.1:g.80196802T>G GRCh37
NC_000006.10:g.80253521T>G NCBI36
NG_016011.1:g.55346A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369846.9:c.2013A>C MANE Select ENSP00000358861.4:p.Arg671=
ENST00000369846.8:c.2013A>C ENSP00000358861.4:p.Arg671=
ENST00000392959.5:c.2013A>C ENSP00000376686.1:p.Arg671=
NM_001122769.2:c.2013A>C NP_001116241.1:p.Arg671=
NM_181714.3:c.2013A>C NP_859065.2:p.Arg671=
XM_005248665.3:c.2013A>C XP_005248722.1:p.Arg671=
XM_011535504.1:c.2013A>C XP_011533806.1:p.Arg671=
XR_942715.1:n.544-1348T>G
XR_942716.1:n.506-1348T>G
XR_942717.1:n.778-1348T>G
XM_005248665.4:c.2013A>C XP_005248722.1:p.Arg671=
XR_001744213.1:n.2169-1348T>G
XR_001744214.1:n.2131-1348T>G
NM_001122769.3:c.2013A>C MANE Select NP_001116241.1:p.Arg671=
NM_181714.4:c.2013A>C NP_859065.2:p.Arg671=