Canonical Allele Identifier: CA364642497

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79489144T>A , CM000668.2:g.79489144T>A	GRCh38
NC_000006.11:g.80198861T>A , CM000668.1:g.80198861T>A	GRCh37
NC_000006.10:g.80255580T>A	NCBI36
NG_016011.1:g.53287A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001122769.3:c.1171A>T MANE Select	NP_001116241.1:p.Lys391Ter
ENST00000369846.9:c.1171A>T MANE Select	ENSP00000358861.4:p.Lys391Ter
NM_001122769.2:c.1171A>T	NP_001116241.1:p.Lys391Ter
NM_181714.3:c.1171A>T	NP_859065.2:p.Lys391Ter
NM_181714.4:c.1171A>T	NP_859065.2:p.Lys391Ter
ENST00000369846.8:c.1171A>T	ENSP00000358861.4:p.Lys391Ter
ENST00000392959.5:c.1171A>T	ENSP00000376686.1:p.Lys391Ter
ENST00000467898.3:c.1171A>T	ENSP00000474463.1:p.Lys391Ter
XM_005248665.3:c.1171A>T	XP_005248722.1:p.Lys391Ter
XM_005248665.4:c.1171A>T	XP_005248722.1:p.Lys391Ter
XM_011535504.1:c.1171A>T	XP_011533806.1:p.Lys391Ter
XR_001744213.1:n.2880T>A
XR_001744214.1:n.2842T>A