Canonical Allele Identifier: CA3900984

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79492604C>T , CM000668.2:g.79492604C>T	GRCh38
NC_000006.11:g.80202321C>T , CM000668.1:g.80202321C>T	GRCh37
NC_000006.10:g.80259040C>T	NCBI36
NG_016011.1:g.49827G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122769.3:c.902G>A MANE Select	NP_001116241.1:p.Arg301His
ENST00000369846.9:c.902G>A MANE Select	ENSP00000358861.4:p.Arg301His
NM_001122769.2:c.902G>A	NP_001116241.1:p.Arg301His
NM_181714.3:c.902G>A	NP_859065.2:p.Arg301His
NM_181714.4:c.902G>A	NP_859065.2:p.Arg301His
ENST00000369846.8:c.902G>A	ENSP00000358861.4:p.Arg301His
ENST00000392959.5:c.902G>A	ENSP00000376686.1:p.Arg301His
ENST00000467898.3:c.902G>A	ENSP00000474463.1:p.Arg301His
XM_005248665.3:c.902G>A	XP_005248722.1:p.Arg301His
XM_005248665.4:c.902G>A	XP_005248722.1:p.Arg301His
XM_011535504.1:c.902G>A	XP_011533806.1:p.Arg301His