Canonical Allele Identifier: CA364640127

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79487545A>T , CM000668.2:g.79487545A>T	GRCh38
NC_000006.11:g.80197262A>T , CM000668.1:g.80197262A>T	GRCh37
NC_000006.10:g.80253981A>T	NCBI36
NG_016011.1:g.54886T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122769.3:c.1553T>A MANE Select	NP_001116241.1:p.Leu518Ter
ENST00000369846.9:c.1553T>A MANE Select	ENSP00000358861.4:p.Leu518Ter
NM_001122769.2:c.1553T>A	NP_001116241.1:p.Leu518Ter
NM_181714.3:c.1553T>A	NP_859065.2:p.Leu518Ter
NM_181714.4:c.1553T>A	NP_859065.2:p.Leu518Ter
ENST00000369846.8:c.1553T>A	ENSP00000358861.4:p.Leu518Ter
ENST00000392959.5:c.1553T>A	ENSP00000376686.1:p.Leu518Ter
XM_005248665.3:c.1553T>A	XP_005248722.1:p.Leu518Ter
XM_005248665.4:c.1553T>A	XP_005248722.1:p.Leu518Ter
XM_011535504.1:c.1553T>A	XP_011533806.1:p.Leu518Ter
XR_001744213.1:n.2169-888A>T
XR_001744214.1:n.2131-888A>T
XR_942715.1:n.544-888A>T
XR_942716.1:n.506-888A>T
XR_942717.1:n.778-888A>T