Canonical Allele Identifier: CA1640629280
Gene: LCA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79491585C= , CM000668.2:g.79491585C= GRCh38
NC_000006.11:g.80201302C= , CM000668.1:g.80201302C= GRCh37
NC_000006.10:g.80258021C= NCBI36
NG_016011.1:g.50846G=

Transcript Alleles

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