Canonical Allele Identifier: CA364645243

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79493636G>C , CM000668.2:g.79493636G>C	GRCh38
NC_000006.11:g.80203353G>C , CM000668.1:g.80203353G>C	GRCh37
NC_000006.10:g.80260072G>C	NCBI36
NG_016011.1:g.48795C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001122769.3:c.835C>G MANE Select	NP_001116241.1:p.Gln279Glu
ENST00000369846.9:c.835C>G MANE Select	ENSP00000358861.4:p.Gln279Glu
NM_001122769.2:c.835C>G	NP_001116241.1:p.Gln279Glu
NM_181714.3:c.835C>G	NP_859065.2:p.Gln279Glu
NM_181714.4:c.835C>G	NP_859065.2:p.Gln279Glu
ENST00000369846.8:c.835C>G	ENSP00000358861.4:p.Gln279Glu
ENST00000392959.5:c.835C>G	ENSP00000376686.1:p.Gln279Glu
ENST00000467898.3:c.835C>G	ENSP00000474463.1:p.Gln279Glu
XM_005248665.3:c.835C>G	XP_005248722.1:p.Gln279Glu
XM_005248665.4:c.835C>G	XP_005248722.1:p.Gln279Glu
XM_011535504.1:c.835C>G	XP_011533806.1:p.Gln279Glu