Canonical Allele Identifier: CA364644387

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79492550C>T , CM000668.2:g.79492550C>T	GRCh38
NC_000006.11:g.80202267C>T , CM000668.1:g.80202267C>T	GRCh37
NC_000006.10:g.80258986C>T	NCBI36
NG_016011.1:g.49881G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122769.3:c.955+1G>A MANE Select	NP_001116241.1:n.955+1G>A
ENST00000369846.9:c.955+1G>A MANE Select	ENSP00000358861.4:n.955+1G>A
NM_001122769.2:c.955+1G>A	NP_001116241.1:n.955+1G>A
NM_181714.3:c.955+1G>A	NP_859065.2:n.955+1G>A
NM_181714.4:c.955+1G>A	NP_859065.2:n.955+1G>A
ENST00000369846.8:c.955+1G>A	ENSP00000358861.4:n.955+1G>A
ENST00000392959.5:c.955+1G>A	ENSP00000376686.1:n.955+1G>A
ENST00000467898.3:c.955+1G>A	ENSP00000474463.1:n.955+1G>A
XM_005248665.3:c.955+1G>A	XP_005248722.1:n.955+1G>A
XM_005248665.4:c.955+1G>A	XP_005248722.1:n.955+1G>A
XM_011535504.1:c.955+1G>A	XP_011533806.1:n.955+1G>A