Canonical Allele Identifier: CA1640627785

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79489070A= , CM000668.2:g.79489070A=	GRCh38
NC_000006.11:g.80198787A= , CM000668.1:g.80198787A=	GRCh37
NC_000006.10:g.80255506A=	NCBI36
NG_016011.1:g.53361T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1231+14T= MANE Select	ENSP00000358861.4:n.1231+14T=
ENST00000369846.8:c.1231+14T=	ENSP00000358861.4:n.1231+14T=
ENST00000392959.5:c.1231+14T=	ENSP00000376686.1:n.1231+14T=
ENST00000467898.3:c.1245T=	ENSP00000474463.1:p.Ser415=
NM_001122769.2:c.1231+14T=	NP_001116241.1:n.1231+14T=
NM_181714.3:c.1231+14T=	NP_859065.2:n.1231+14T=
XM_005248665.3:c.1231+14T=	XP_005248722.1:n.1231+14T=
XM_011535504.1:c.1231+14T=	XP_011533806.1:n.1231+14T=
XR_942715.1:n.1181A=
XR_942716.1:n.1143A=
XR_942717.1:n.1415A=
XM_005248665.4:c.1231+14T=	XP_005248722.1:n.1231+14T=
XR_001744213.1:n.2806A=
XR_001744214.1:n.2768A=
NM_001122769.3:c.1231+14T= MANE Select	NP_001116241.1:n.1231+14T=
NM_181714.4:c.1231+14T=	NP_859065.2:n.1231+14T=