Canonical Allele Identifier: CA141859626

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79486507C>T , CM000668.2:g.79486507C>T	GRCh38
NC_000006.11:g.80196224C>T , CM000668.1:g.80196224C>T	GRCh37
NC_000006.10:g.80252943C>T	NCBI36
NG_016011.1:g.55924G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122769.3:c.*497G>A MANE Select	NP_001116241.1:n.*497G>A
ENST00000369846.9:c.*497G>A MANE Select	ENSP00000358861.4:n.*497G>A
NM_001122769.2:c.*497G>A	NP_001116241.1:n.*497G>A
NM_181714.3:c.*497G>A	NP_859065.2:n.*497G>A
NM_181714.4:c.*497G>A	NP_859065.2:n.*497G>A
ENST00000369846.8:c.*497G>A	ENSP00000358861.4:n.*497G>A
ENST00000392959.5:c.*497G>A	ENSP00000376686.1:n.*497G>A
XM_005248665.3:c.*497G>A	XP_005248722.1:n.*497G>A
XM_005248665.4:c.*497G>A	XP_005248722.1:n.*497G>A
XM_011535504.1:c.*497G>A	XP_011533806.1:n.*497G>A
XR_001744213.1:n.2169-1926C>T
XR_001744214.1:n.2131-1926C>T
XR_942715.1:n.544-1926C>T
XR_942716.1:n.506-1926C>T
XR_942717.1:n.778-1926C>T